SNP Links for Protein (Select 28875786) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 747

<< First< Prev

Page of 38

Select item 14907688821.

rs1490768882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141651105 (GRCh38)
5:141030672 (GRCh37)
Canonical SPDI:: NC_000005.10:141651104:G:A
Gene:: FCHSD1 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141651105G>A, NC_000005.9:g.141030672G>A, XM_005268524.6:c.34C>T, XM_005268524.5:c.34C>T, XM_005268524.4:c.34C>T, XM_005268524.3:c.34C>T, XM_005268524.2:c.34C>T, XM_005268524.1:c.34C>T, XM_006714803.5:c.34C>T, XM_006714803.4:c.34C>T, XM_006714803.3:c.34C>T, XM_006714803.2:c.34C>T, XM_006714803.1:c.34C>T, XR_427781.5:n.84C>T, XR_427781.4:n.36C>T, XR_427781.3:n.119C>T, XR_427781.2:n.94C>T, XR_427781.1:n.79C>T, XR_944338.4:n.84C>T, XR_944338.3:n.109C>T, XR_944338.2:n.119C>T, XR_944338.1:n.94C>T, XR_944339.4:n.84C>T, XR_944339.3:n.109C>T, XR_944339.2:n.119C>T, XR_944339.1:n.94C>T, XM_011537700.4:c.34C>T, XM_011537700.3:c.34C>T, XM_011537700.2:c.34C>T, XM_011537700.1:c.34C>T, XM_011537701.4:c.34C>T, XM_011537701.3:c.34C>T, XM_011537701.2:c.34C>T, XM_011537701.1:c.34C>T, NM_033449.3:c.34C>T, NM_033449.2:c.34C>T, XM_047417860.1:c.34C>T, XM_047417861.1:c.34C>T, XP_005268581.1:p.Gln12Ter, XP_006714866.1:p.Gln12Ter, XP_011536002.1:p.Gln12Ter, XP_011536003.1:p.Gln12Ter, NP_258260.1:p.Gln12Ter, XP_047273816.1:p.Gln12Ter, XP_047273817.1:p.Gln12Ter

Select item 14907570612.

rs1490757061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141649436 (GRCh38)
5:141029003 (GRCh37)
Canonical SPDI:: NC_000005.10:141649435:C:T
Gene:: FCHSD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141649436C>T, NC_000005.9:g.141029003C>T, XM_005268524.6:c.328G>A, XM_005268524.5:c.328G>A, XM_005268524.4:c.328G>A, XM_005268524.3:c.328G>A, XM_005268524.2:c.328G>A, XM_005268524.1:c.328G>A, XM_006714803.5:c.334G>A, XM_006714803.4:c.334G>A, XM_006714803.3:c.334G>A, XM_006714803.2:c.334G>A, XM_006714803.1:c.334G>A, XR_427781.5:n.378G>A, XR_427781.4:n.330G>A, XR_427781.3:n.413G>A, XR_427781.2:n.388G>A, XR_427781.1:n.373G>A, XR_944338.4:n.384G>A, XR_944338.3:n.409G>A, XR_944338.2:n.419G>A, XR_944338.1:n.394G>A, XR_944339.4:n.384G>A, XR_944339.3:n.409G>A, XR_944339.2:n.419G>A, XR_944339.1:n.394G>A, XM_011537700.4:c.334G>A, XM_011537700.3:c.334G>A, XM_011537700.2:c.334G>A, XM_011537700.1:c.334G>A, XM_011537701.4:c.334G>A, XM_011537701.3:c.334G>A, XM_011537701.2:c.334G>A, XM_011537701.1:c.334G>A, NM_033449.3:c.334G>A, NM_033449.2:c.334G>A, XM_047417860.1:c.328G>A, XM_047417861.1:c.334G>A, XP_005268581.1:p.Gly110Arg, XP_006714866.1:p.Gly112Arg, XP_011536002.1:p.Gly112Arg, XP_011536003.1:p.Gly112Arg, NP_258260.1:p.Gly112Arg, XP_047273816.1:p.Gly110Arg, XP_047273817.1:p.Gly112Arg

Select item 14868708113.

rs1486870811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:141649887 (GRCh38)
5:141029454 (GRCh37)
Canonical SPDI:: NC_000005.10:141649886:C:G
Gene:: FCHSD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.141649887C>G, NC_000005.9:g.141029454C>G, XM_005268524.6:c.233G>C, XM_005268524.5:c.233G>C, XM_005268524.4:c.233G>C, XM_005268524.3:c.233G>C, XM_005268524.2:c.233G>C, XM_005268524.1:c.233G>C, XM_006714803.5:c.233G>C, XM_006714803.4:c.233G>C, XM_006714803.3:c.233G>C, XM_006714803.2:c.233G>C, XM_006714803.1:c.233G>C, XR_427781.5:n.283G>C, XR_427781.4:n.235G>C, XR_427781.3:n.318G>C, XR_427781.2:n.293G>C, XR_427781.1:n.278G>C, XR_944338.4:n.283G>C, XR_944338.3:n.308G>C, XR_944338.2:n.318G>C, XR_944338.1:n.293G>C, XR_944339.4:n.283G>C, XR_944339.3:n.308G>C, XR_944339.2:n.318G>C, XR_944339.1:n.293G>C, XM_011537700.4:c.233G>C, XM_011537700.3:c.233G>C, XM_011537700.2:c.233G>C, XM_011537700.1:c.233G>C, XM_011537701.4:c.233G>C, XM_011537701.3:c.233G>C, XM_011537701.2:c.233G>C, XM_011537701.1:c.233G>C, NM_033449.3:c.233G>C, NM_033449.2:c.233G>C, XM_047417860.1:c.233G>C, XM_047417861.1:c.233G>C, XP_005268581.1:p.Arg78Thr, XP_006714866.1:p.Arg78Thr, XP_011536002.1:p.Arg78Thr, XP_011536003.1:p.Arg78Thr, NP_258260.1:p.Arg78Thr, XP_047273816.1:p.Arg78Thr, XP_047273817.1:p.Arg78Thr

Select item 14866726234.

rs1486672623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141644587 (GRCh38)
5:141024154 (GRCh37)
Canonical SPDI:: NC_000005.10:141644586:C:T
Gene:: FCHSD1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141644587C>T, NC_000005.9:g.141024154C>T, XM_005268524.6:c.1622G>A, XM_005268524.5:c.1622G>A, XM_005268524.4:c.1622G>A, XM_005268524.3:c.1622G>A, XM_005268524.2:c.1622G>A, XM_005268524.1:c.1622G>A, XM_006714803.5:c.1499G>A, XM_006714803.4:c.1499G>A, XM_006714803.3:c.1499G>A, XM_006714803.2:c.1499G>A, XM_006714803.1:c.1499G>A, XR_427781.5:n.1668G>A, XR_427781.4:n.1620G>A, XR_427781.3:n.1703G>A, XR_944338.4:n.1628G>A, XR_944338.3:n.1653G>A, XR_944338.2:n.1663G>A, XR_944338.1:n.1638G>A, XR_944339.4:n.1674G>A, XR_944339.3:n.1699G>A, XR_944339.2:n.1709G>A, NM_033449.3:c.1628G>A, NM_033449.2:c.1628G>A, XM_047417860.1:c.1493G>A, XM_047417861.1:c.1628G>A, XP_005268581.1:p.Gly541Glu, XP_006714866.1:p.Gly500Glu, NP_258260.1:p.Gly543Glu, XP_047273816.1:p.Gly498Glu, XP_047273817.1:p.Gly543Glu

Select item 14851351205.

rs1485135120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:141649252 (GRCh38)
5:141028819 (GRCh37)
Canonical SPDI:: NC_000005.10:141649251:C:G
Gene:: FCHSD1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141649252C>G, NC_000005.9:g.141028819C>G, XM_005268524.6:c.426G>C, XM_005268524.5:c.426G>C, XM_005268524.4:c.426G>C, XM_005268524.3:c.426G>C, XM_005268524.2:c.426G>C, XM_005268524.1:c.426G>C, XM_006714803.5:c.432G>C, XM_006714803.4:c.432G>C, XM_006714803.3:c.432G>C, XM_006714803.2:c.432G>C, XM_006714803.1:c.432G>C, XR_427781.5:n.476G>C, XR_427781.4:n.428G>C, XR_427781.3:n.511G>C, XR_427781.2:n.486G>C, XR_427781.1:n.471G>C, XR_944338.4:n.482G>C, XR_944338.3:n.507G>C, XR_944338.2:n.517G>C, XR_944338.1:n.492G>C, XR_944339.4:n.482G>C, XR_944339.3:n.507G>C, XR_944339.2:n.517G>C, XR_944339.1:n.492G>C, XM_011537700.4:c.432G>C, XM_011537700.3:c.432G>C, XM_011537700.2:c.432G>C, XM_011537700.1:c.432G>C, XM_011537701.4:c.432G>C, XM_011537701.3:c.432G>C, XM_011537701.2:c.432G>C, XM_011537701.1:c.432G>C, NM_033449.3:c.432G>C, NM_033449.2:c.432G>C, XM_047417860.1:c.426G>C, XM_047417861.1:c.432G>C

Select item 14832729406.

rs1483272940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141649488 (GRCh38)
5:141029055 (GRCh37)
Canonical SPDI:: NC_000005.10:141649487:C:T
Gene:: FCHSD1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.141649488C>T, NC_000005.9:g.141029055C>T, XM_005268524.6:c.276G>A, XM_005268524.5:c.276G>A, XM_005268524.4:c.276G>A, XM_005268524.3:c.276G>A, XM_005268524.2:c.276G>A, XM_005268524.1:c.276G>A, XM_006714803.5:c.282G>A, XM_006714803.4:c.282G>A, XM_006714803.3:c.282G>A, XM_006714803.2:c.282G>A, XM_006714803.1:c.282G>A, XR_427781.5:n.326G>A, XR_427781.4:n.278G>A, XR_427781.3:n.361G>A, XR_427781.2:n.336G>A, XR_427781.1:n.321G>A, XR_944338.4:n.332G>A, XR_944338.3:n.357G>A, XR_944338.2:n.367G>A, XR_944338.1:n.342G>A, XR_944339.4:n.332G>A, XR_944339.3:n.357G>A, XR_944339.2:n.367G>A, XR_944339.1:n.342G>A, XM_011537700.4:c.282G>A, XM_011537700.3:c.282G>A, XM_011537700.2:c.282G>A, XM_011537700.1:c.282G>A, XM_011537701.4:c.282G>A, XM_011537701.3:c.282G>A, XM_011537701.2:c.282G>A, XM_011537701.1:c.282G>A, NM_033449.3:c.282G>A, NM_033449.2:c.282G>A, XM_047417860.1:c.276G>A, XM_047417861.1:c.282G>A

Select item 14831397317.

rs1483139731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141648004 (GRCh38)
5:141027571 (GRCh37)
Canonical SPDI:: NC_000005.10:141648003:G:A
Gene:: FCHSD1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141648004G>A, NC_000005.9:g.141027571G>A, XM_005268524.6:c.663C>T, XM_005268524.5:c.663C>T, XM_005268524.4:c.663C>T, XM_005268524.3:c.663C>T, XM_005268524.2:c.663C>T, XM_005268524.1:c.663C>T, XR_427781.5:n.713C>T, XR_427781.4:n.665C>T, XR_427781.3:n.748C>T, XR_427781.2:n.723C>T, XR_427781.1:n.708C>T, XR_944338.4:n.719C>T, XR_944338.3:n.744C>T, XR_944338.2:n.754C>T, XR_944338.1:n.729C>T, XR_944339.4:n.719C>T, XR_944339.3:n.744C>T, XR_944339.2:n.754C>T, XR_944339.1:n.729C>T, XM_011537700.4:c.669C>T, XM_011537700.3:c.669C>T, XM_011537700.2:c.669C>T, XM_011537700.1:c.669C>T, XM_011537701.4:c.669C>T, XM_011537701.3:c.669C>T, XM_011537701.2:c.669C>T, XM_011537701.1:c.669C>T, NM_033449.3:c.669C>T, NM_033449.2:c.669C>T, XM_047417861.1:c.669C>T

Select item 14815490568.

rs1481549056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:141645791 (GRCh38)
5:141025358 (GRCh37)
Canonical SPDI:: NC_000005.10:141645790:G:C
Gene:: FCHSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141645791G>C, NC_000005.9:g.141025358G>C, XM_005268524.6:c.1285C>G, XM_005268524.5:c.1285C>G, XM_005268524.4:c.1285C>G, XM_005268524.3:c.1285C>G, XM_005268524.2:c.1285C>G, XM_005268524.1:c.1285C>G, XM_006714803.5:c.1162C>G, XM_006714803.4:c.1162C>G, XM_006714803.3:c.1162C>G, XM_006714803.2:c.1162C>G, XM_006714803.1:c.1162C>G, XR_427781.5:n.1335C>G, XR_427781.4:n.1287C>G, XR_427781.3:n.1370C>G, XR_427781.2:n.1345C>G, XR_427781.1:n.1330C>G, XR_944338.4:n.1341C>G, XR_944338.3:n.1366C>G, XR_944338.2:n.1376C>G, XR_944338.1:n.1351C>G, XR_944339.4:n.1341C>G, XR_944339.3:n.1366C>G, XR_944339.2:n.1376C>G, XR_944339.1:n.1351C>G, XM_011537700.4:c.1291C>G, XM_011537700.3:c.1291C>G, XM_011537700.2:c.1291C>G, XM_011537700.1:c.1291C>G, NM_033449.3:c.1291C>G, NM_033449.2:c.1291C>G, XM_047417860.1:c.1156C>G, XM_047417861.1:c.1291C>G, XP_005268581.1:p.Gln429Glu, XP_006714866.1:p.Gln388Glu, XP_011536002.1:p.Gln431Glu, NP_258260.1:p.Gln431Glu, XP_047273816.1:p.Gln386Glu, XP_047273817.1:p.Gln431Glu

Select item 14814036459.

rs1481403645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141651030 (GRCh38)
5:141030597 (GRCh37)
Canonical SPDI:: NC_000005.10:141651029:C:A
Gene:: FCHSD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000014/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141651030C>A, NC_000005.9:g.141030597C>A, XM_005268524.6:c.109G>T, XM_005268524.5:c.109G>T, XM_005268524.4:c.109G>T, XM_005268524.3:c.109G>T, XM_005268524.2:c.109G>T, XM_005268524.1:c.109G>T, XM_006714803.5:c.109G>T, XM_006714803.4:c.109G>T, XM_006714803.3:c.109G>T, XM_006714803.2:c.109G>T, XM_006714803.1:c.109G>T, XR_427781.5:n.159G>T, XR_427781.4:n.111G>T, XR_427781.3:n.194G>T, XR_427781.2:n.169G>T, XR_427781.1:n.154G>T, XR_944338.4:n.159G>T, XR_944338.3:n.184G>T, XR_944338.2:n.194G>T, XR_944338.1:n.169G>T, XR_944339.4:n.159G>T, XR_944339.3:n.184G>T, XR_944339.2:n.194G>T, XR_944339.1:n.169G>T, XM_011537700.4:c.109G>T, XM_011537700.3:c.109G>T, XM_011537700.2:c.109G>T, XM_011537700.1:c.109G>T, XM_011537701.4:c.109G>T, XM_011537701.3:c.109G>T, XM_011537701.2:c.109G>T, XM_011537701.1:c.109G>T, NM_033449.3:c.109G>T, NM_033449.2:c.109G>T, XM_047417860.1:c.109G>T, XM_047417861.1:c.109G>T, XP_005268581.1:p.Glu37Ter, XP_006714866.1:p.Glu37Ter, XP_011536002.1:p.Glu37Ter, XP_011536003.1:p.Glu37Ter, NP_258260.1:p.Glu37Ter, XP_047273816.1:p.Glu37Ter, XP_047273817.1:p.Glu37Ter

Select item 148032272910.

rs1480322729 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTGTGCAGATGAGAGAAAGGAGTCAG [Show Flanks]
Chromosome:: 5:141649017 (GRCh38)
5:141028585 (GRCh37)
Canonical SPDI:: NC_000005.10:141649017:AGCCTGTGCAGATGAGAGAAAGGAGTCAG:AGCCTGTGCAGATGAGAGAAAGGAGTCAGCCTGTGCAGATGAGAGAAAGGAGTCAG
Gene:: FCHSD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,splice_acceptor_variant
Validated:: by frequency
MAF:: AGCCTGTGCAGATGAGAGAAAGGAGTC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141649020_141649046dup, NC_000005.9:g.141028587_141028613dup

Select item 147830322911.

rs1478303229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141643075 (GRCh38)
5:141022642 (GRCh37)
Canonical SPDI:: NC_000005.10:141643074:G:A
Gene:: FCHSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.141643075G>A, NC_000005.9:g.141022642G>A, XM_005268524.6:c.1871C>T, XM_005268524.5:c.1871C>T, XM_005268524.4:c.1871C>T, XM_005268524.3:c.1871C>T, XM_005268524.2:c.1871C>T, XM_005268524.1:c.1871C>T, XM_006714803.5:c.1748C>T, XM_006714803.4:c.1748C>T, XM_006714803.3:c.1748C>T, XM_006714803.2:c.1748C>T, XM_006714803.1:c.1748C>T, NM_033449.3:c.1877C>T, NM_033449.2:c.1877C>T, XM_047417860.1:c.1742C>T, XP_005268581.1:p.Pro624Leu, XP_006714866.1:p.Pro583Leu, NP_258260.1:p.Pro626Leu, XP_047273816.1:p.Pro581Leu

Select item 147492120212.

rs1474921202 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:141645781 (GRCh38)
5:141025348 (GRCh37)
Canonical SPDI:: NC_000005.10:141645775:GAGAGAG:GAGAG
Gene:: FCHSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.141645777AG[2], NC_000005.9:g.141025344AG[2], XM_005268524.6:c.1299_1300del, XM_005268524.5:c.1299_1300del, XM_005268524.4:c.1299_1300del, XM_005268524.3:c.1299_1300del, XM_005268524.2:c.1299_1300del, XM_005268524.1:c.1299_1300del, XM_006714803.5:c.1176_1177del, XM_006714803.4:c.1176_1177del, XM_006714803.3:c.1176_1177del, XM_006714803.2:c.1176_1177del, XM_006714803.1:c.1176_1177del, XR_427781.5:n.1345TC[2], XR_427781.4:n.1297TC[2], XR_427781.3:n.1380TC[2], XR_427781.2:n.1355TC[2], XR_427781.1:n.1340TC[2], XR_944338.4:n.1351TC[2], XR_944338.3:n.1376TC[2], XR_944338.2:n.1386TC[2], XR_944338.1:n.1361TC[2], XR_944339.4:n.1351TC[2], XR_944339.3:n.1376TC[2], XR_944339.2:n.1386TC[2], XR_944339.1:n.1361TC[2], XM_011537700.4:c.1305_1306del, XM_011537700.3:c.1305_1306del, XM_011537700.2:c.1305_1306del, XM_011537700.1:c.1305_1306del, NM_033449.3:c.1305_1306del, NM_033449.2:c.1305_1306del, XM_047417860.1:c.1170_1171del, XM_047417861.1:c.1305_1306del, XP_005268581.1:p.Pro434fs, XP_006714866.1:p.Pro393fs, XP_011536002.1:p.Pro436fs, NP_258260.1:p.Pro436fs, XP_047273816.1:p.Pro391fs, XP_047273817.1:p.Pro436fs

Select item 147238501313.

rs1472385013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:141646160 (GRCh38)
5:141025727 (GRCh37)
Canonical SPDI:: NC_000005.10:141646159:T:G
Gene:: FCHSD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141646160T>G, NC_000005.9:g.141025727T>G, XM_005268524.6:c.1070A>C, XM_005268524.5:c.1070A>C, XM_005268524.4:c.1070A>C, XM_005268524.3:c.1070A>C, XM_005268524.2:c.1070A>C, XM_005268524.1:c.1070A>C, XM_006714803.5:c.947A>C, XM_006714803.4:c.947A>C, XM_006714803.3:c.947A>C, XM_006714803.2:c.947A>C, XM_006714803.1:c.947A>C, XR_427781.5:n.1120A>C, XR_427781.4:n.1072A>C, XR_427781.3:n.1155A>C, XR_427781.2:n.1130A>C, XR_427781.1:n.1115A>C, XR_944338.4:n.1126A>C, XR_944338.3:n.1151A>C, XR_944338.2:n.1161A>C, XR_944338.1:n.1136A>C, XR_944339.4:n.1126A>C, XR_944339.3:n.1151A>C, XR_944339.2:n.1161A>C, XR_944339.1:n.1136A>C, XM_011537700.4:c.1076A>C, XM_011537700.3:c.1076A>C, XM_011537700.2:c.1076A>C, XM_011537700.1:c.1076A>C, XM_011537701.4:c.1081A>C, XM_011537701.3:c.1081A>C, XM_011537701.2:c.1081A>C, XM_011537701.1:c.1081A>C, NM_033449.3:c.1076A>C, NM_033449.2:c.1076A>C, XM_047417860.1:c.941A>C, XM_047417861.1:c.1076A>C, XP_005268581.1:p.Gln357Pro, XP_006714866.1:p.Gln316Pro, XP_011536002.1:p.Gln359Pro, NP_258260.1:p.Gln359Pro, XP_047273816.1:p.Gln314Pro, XP_047273817.1:p.Gln359Pro

Select item 146741114414.

rs1467411144 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:141645073 (GRCh38)
5:141024641 (GRCh37)
Canonical SPDI:: NC_000005.10:141645073:TT:TTT
Gene:: FCHSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141645075dup, NC_000005.9:g.141024642dup, XM_005268524.6:c.1380dup, XM_005268524.5:c.1380dup, XM_005268524.4:c.1380dup, XM_005268524.3:c.1380dup, XM_005268524.2:c.1380dup, XM_005268524.1:c.1380dup, XM_006714803.5:c.1257dup, XM_006714803.4:c.1257dup, XM_006714803.3:c.1257dup, XM_006714803.2:c.1257dup, XM_006714803.1:c.1257dup, XR_427781.5:n.1430dup, XR_427781.4:n.1382dup, XR_427781.3:n.1465dup, XR_427781.2:n.1440dup, XR_427781.1:n.1425dup, XR_944338.4:n.1436dup, XR_944338.3:n.1461dup, XR_944338.2:n.1471dup, XR_944338.1:n.1446dup, XR_944339.4:n.1436dup, XR_944339.3:n.1461dup, XR_944339.2:n.1471dup, XR_944339.1:n.1446dup, XM_011537700.4:c.1386dup, XM_011537700.3:c.1386dup, XM_011537700.2:c.1386dup, XM_011537700.1:c.1386dup, NM_033449.3:c.1386dup, NM_033449.2:c.1386dup, XM_047417860.1:c.1251dup, XM_047417861.1:c.1386dup, XP_005268581.1:p.Ala461fs, XP_006714866.1:p.Ala420fs, XP_011536002.1:p.Ala463fs, NP_258260.1:p.Ala463fs, XP_047273816.1:p.Ala418fs, XP_047273817.1:p.Ala463fs

Select item 146738327515.

rs1467383275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141644353 (GRCh38)
5:141023920 (GRCh37)
Canonical SPDI:: NC_000005.10:141644352:C:G,NC_000005.10:141644352:C:T
Gene:: FCHSD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.141644353C>G, NC_000005.10:g.141644353C>T, NC_000005.9:g.141023920C>G, NC_000005.9:g.141023920C>T, XM_005268524.6:c.1722G>C, XM_005268524.6:c.1722G>A, XM_005268524.5:c.1722G>C, XM_005268524.5:c.1722G>A, XM_005268524.4:c.1722G>C, XM_005268524.4:c.1722G>A, XM_005268524.3:c.1722G>C, XM_005268524.3:c.1722G>A, XM_005268524.2:c.1722G>C, XM_005268524.2:c.1722G>A, XM_005268524.1:c.1722G>C, XM_005268524.1:c.1722G>A, XM_006714803.5:c.1599G>C, XM_006714803.5:c.1599G>A, XM_006714803.4:c.1599G>C, XM_006714803.4:c.1599G>A, XM_006714803.3:c.1599G>C, XM_006714803.3:c.1599G>A, XM_006714803.2:c.1599G>C, XM_006714803.2:c.1599G>A, XM_006714803.1:c.1599G>C, XM_006714803.1:c.1599G>A, XR_944338.4:n.1728G>C, XR_944338.4:n.1728G>A, XR_944338.3:n.1753G>C, XR_944338.3:n.1753G>A, XR_944338.2:n.1763G>C, XR_944338.2:n.1763G>A, XR_944338.1:n.1738G>C, XR_944338.1:n.1738G>A, NM_033449.3:c.1728G>C, NM_033449.3:c.1728G>A, NM_033449.2:c.1728G>C, NM_033449.2:c.1728G>A, XM_047417860.1:c.1593G>C, XM_047417860.1:c.1593G>A, XM_047417861.1:c.1728G>C, XM_047417861.1:c.1728G>A

Select item 146691048016.

rs1466910480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141641737 (GRCh38)
5:141021304 (GRCh37)
Canonical SPDI:: NC_000005.10:141641736:C:T
Gene:: FCHSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.141641737C>T, NC_000005.9:g.141021304C>T, NG_029678.2:g.120G>A, XM_005268524.6:c.1966G>A, XM_005268524.5:c.1966G>A, XM_005268524.4:c.1966G>A, XM_005268524.3:c.1966G>A, XM_005268524.2:c.1966G>A, XM_005268524.1:c.1966G>A, XM_006714803.5:c.1843G>A, XM_006714803.4:c.1843G>A, XM_006714803.3:c.1843G>A, XM_006714803.2:c.1843G>A, XM_006714803.1:c.1843G>A, NM_033449.3:c.1972G>A, NM_033449.2:c.1972G>A, XM_047417860.1:c.1837G>A, XM_047417861.1:c.1884G>A, XP_005268581.1:p.Gly656Arg, XP_006714866.1:p.Gly615Arg, NP_258260.1:p.Gly658Arg, XP_047273816.1:p.Gly613Arg

Select item 146637015117.

rs1466370151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:141641753 (GRCh38)
5:141021320 (GRCh37)
Canonical SPDI:: NC_000005.10:141641752:T:A,NC_000005.10:141641752:T:C
Gene:: FCHSD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141641753T>A, NC_000005.10:g.141641753T>C, NC_000005.9:g.141021320T>A, NC_000005.9:g.141021320T>C, NG_029678.2:g.104A>T, NG_029678.2:g.104A>G, XM_005268524.6:c.1950A>T, XM_005268524.6:c.1950A>G, XM_005268524.5:c.1950A>T, XM_005268524.5:c.1950A>G, XM_005268524.4:c.1950A>T, XM_005268524.4:c.1950A>G, XM_005268524.3:c.1950A>T, XM_005268524.3:c.1950A>G, XM_005268524.2:c.1950A>T, XM_005268524.2:c.1950A>G, XM_005268524.1:c.1950A>T, XM_005268524.1:c.1950A>G, XM_006714803.5:c.1827A>T, XM_006714803.5:c.1827A>G, XM_006714803.4:c.1827A>T, XM_006714803.4:c.1827A>G, XM_006714803.3:c.1827A>T, XM_006714803.3:c.1827A>G, XM_006714803.2:c.1827A>T, XM_006714803.2:c.1827A>G, XM_006714803.1:c.1827A>T, XM_006714803.1:c.1827A>G, NM_033449.3:c.1956A>T, NM_033449.3:c.1956A>G, NM_033449.2:c.1956A>T, NM_033449.2:c.1956A>G, XM_047417860.1:c.1821A>T, XM_047417860.1:c.1821A>G, XM_047417861.1:c.1868A>T, XM_047417861.1:c.1868A>G, XP_005268581.1:p.Lys650Asn, XP_006714866.1:p.Lys609Asn, NP_258260.1:p.Lys652Asn, XP_047273816.1:p.Lys607Asn, XP_047273817.1:p.Lys623Met, XP_047273817.1:p.Lys623Arg

Select item 146626100418.

rs1466261004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141649308 (GRCh38)
5:141028875 (GRCh37)
Canonical SPDI:: NC_000005.10:141649307:C:T
Gene:: FCHSD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141649308C>T, NC_000005.9:g.141028875C>T, XM_005268524.6:c.370G>A, XM_005268524.5:c.370G>A, XM_005268524.4:c.370G>A, XM_005268524.3:c.370G>A, XM_005268524.2:c.370G>A, XM_005268524.1:c.370G>A, XM_006714803.5:c.376G>A, XM_006714803.4:c.376G>A, XM_006714803.3:c.376G>A, XM_006714803.2:c.376G>A, XM_006714803.1:c.376G>A, XR_427781.5:n.420G>A, XR_427781.4:n.372G>A, XR_427781.3:n.455G>A, XR_427781.2:n.430G>A, XR_427781.1:n.415G>A, XR_944338.4:n.426G>A, XR_944338.3:n.451G>A, XR_944338.2:n.461G>A, XR_944338.1:n.436G>A, XR_944339.4:n.426G>A, XR_944339.3:n.451G>A, XR_944339.2:n.461G>A, XR_944339.1:n.436G>A, XM_011537700.4:c.376G>A, XM_011537700.3:c.376G>A, XM_011537700.2:c.376G>A, XM_011537700.1:c.376G>A, XM_011537701.4:c.376G>A, XM_011537701.3:c.376G>A, XM_011537701.2:c.376G>A, XM_011537701.1:c.376G>A, NM_033449.3:c.376G>A, NM_033449.2:c.376G>A, XM_047417860.1:c.370G>A, XM_047417861.1:c.376G>A, XP_005268581.1:p.Gly124Arg, XP_006714866.1:p.Gly126Arg, XP_011536002.1:p.Gly126Arg, XP_011536003.1:p.Gly126Arg, NP_258260.1:p.Gly126Arg, XP_047273816.1:p.Gly124Arg, XP_047273817.1:p.Gly126Arg

Select item 146580068919.

rs1465800689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141647462 (GRCh38)
5:141027029 (GRCh37)
Canonical SPDI:: NC_000005.10:141647461:G:A
Gene:: FCHSD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141647462G>A, NC_000005.9:g.141027029G>A, XM_005268524.6:c.758C>T, XM_005268524.5:c.758C>T, XM_005268524.4:c.758C>T, XM_005268524.3:c.758C>T, XM_005268524.2:c.758C>T, XM_005268524.1:c.758C>T, XM_006714803.5:c.635C>T, XM_006714803.4:c.635C>T, XM_006714803.3:c.635C>T, XM_006714803.2:c.635C>T, XM_006714803.1:c.635C>T, XR_427781.5:n.808C>T, XR_427781.4:n.760C>T, XR_427781.3:n.843C>T, XR_427781.2:n.818C>T, XR_427781.1:n.803C>T, XR_944338.4:n.814C>T, XR_944338.3:n.839C>T, XR_944338.2:n.849C>T, XR_944338.1:n.824C>T, XR_944339.4:n.814C>T, XR_944339.3:n.839C>T, XR_944339.2:n.849C>T, XR_944339.1:n.824C>T, XM_011537700.4:c.764C>T, XM_011537700.3:c.764C>T, XM_011537700.2:c.764C>T, XM_011537700.1:c.764C>T, XM_011537701.4:c.764C>T, XM_011537701.3:c.764C>T, XM_011537701.2:c.764C>T, XM_011537701.1:c.764C>T, NM_033449.3:c.764C>T, NM_033449.2:c.764C>T, XM_047417860.1:c.629C>T, XM_047417861.1:c.764C>T, XP_005268581.1:p.Thr253Ile, XP_006714866.1:p.Thr212Ile, XP_011536002.1:p.Thr255Ile, XP_011536003.1:p.Thr255Ile, NP_258260.1:p.Thr255Ile, XP_047273816.1:p.Thr210Ile, XP_047273817.1:p.Thr255Ile

Select item 146385347420.

rs1463853474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141649507 (GRCh38)
5:141029074 (GRCh37)
Canonical SPDI:: NC_000005.10:141649506:C:A
Gene:: FCHSD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141649507C>A, NC_000005.9:g.141029074C>A, XM_005268524.6:c.257G>T, XM_005268524.5:c.257G>T, XM_005268524.4:c.257G>T, XM_005268524.3:c.257G>T, XM_005268524.2:c.257G>T, XM_005268524.1:c.257G>T, XM_006714803.5:c.263G>T, XM_006714803.4:c.263G>T, XM_006714803.3:c.263G>T, XM_006714803.2:c.263G>T, XM_006714803.1:c.263G>T, XR_427781.5:n.307G>T, XR_427781.4:n.259G>T, XR_427781.3:n.342G>T, XR_427781.2:n.317G>T, XR_427781.1:n.302G>T, XR_944338.4:n.313G>T, XR_944338.3:n.338G>T, XR_944338.2:n.348G>T, XR_944338.1:n.323G>T, XR_944339.4:n.313G>T, XR_944339.3:n.338G>T, XR_944339.2:n.348G>T, XR_944339.1:n.323G>T, XM_011537700.4:c.263G>T, XM_011537700.3:c.263G>T, XM_011537700.2:c.263G>T, XM_011537700.1:c.263G>T, XM_011537701.4:c.263G>T, XM_011537701.3:c.263G>T, XM_011537701.2:c.263G>T, XM_011537701.1:c.263G>T, NM_033449.3:c.263G>T, NM_033449.2:c.263G>T, XM_047417860.1:c.257G>T, XM_047417861.1:c.263G>T, XP_005268581.1:p.Cys86Phe, XP_006714866.1:p.Cys88Phe, XP_011536002.1:p.Cys88Phe, XP_011536003.1:p.Cys88Phe, NP_258260.1:p.Cys88Phe, XP_047273816.1:p.Cys86Phe, XP_047273817.1:p.Cys88Phe

<< First< Prev

Page of 38

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 28875786) (747)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...