SNP Links for Protein (Select 145279222) - SNP

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Links from Protein

Items: 1 to 20 of 1136

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Select item 14908596331.

rs1490859633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121999769 (GRCh38)
12:122437675 (GRCh37)
Canonical SPDI:: NC_000012.12:121999768:G:A
Gene:: CFAP251 (Varview), LOC124903038 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.121999769G>A, NC_000012.11:g.122437675G>A, NG_021364.2:g.86213G>A, NM_144668.6:c.3060G>A, NM_144668.5:c.3060G>A

Select item 14896722532.

rs1489672253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:121958500 (GRCh38)
12:122396406 (GRCh37)
Canonical SPDI:: NC_000012.12:121958499:G:C
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121958500G>C, NC_000012.11:g.122396406G>C, NG_021364.2:g.44944G>C, NM_144668.6:c.1959G>C, NM_144668.5:c.1959G>C, NM_001178003.2:c.1959G>C, NM_001178003.1:c.1959G>C, NP_653269.3:p.Gln653His, NP_001171474.1:p.Gln653His

Select item 14894732043.

rs1489473204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121923811 (GRCh38)
12:122361717 (GRCh37)
Canonical SPDI:: NC_000012.12:121923810:C:T
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121923811C>T, NC_000012.11:g.122361717C>T, NG_021364.2:g.10255C>T, NM_144668.6:c.568C>T, NM_144668.5:c.568C>T, NM_001178003.2:c.568C>T, NM_001178003.1:c.568C>T, NP_653269.3:p.Pro190Ser, NP_001171474.1:p.Pro190Ser

Select item 14887532484.

rs1488753248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:121960595 (GRCh38)
12:122398501 (GRCh37)
Canonical SPDI:: NC_000012.12:121960594:T:C
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121960595T>C, NC_000012.11:g.122398501T>C, NG_021364.2:g.47039T>C, NM_144668.6:c.2144T>C, NM_144668.5:c.2144T>C, NM_001178003.2:c.2144T>C, NM_001178003.1:c.2144T>C, NP_653269.3:p.Phe715Ser, NP_001171474.1:p.Phe715Ser

Select item 14883960875.

rs1488396087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121921482 (GRCh38)
12:122359388 (GRCh37)
Canonical SPDI:: NC_000012.12:121921481:G:A
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121921482G>A, NC_000012.11:g.122359388G>A, NG_021364.2:g.7926G>A, NM_144668.6:c.177G>A, NM_144668.5:c.177G>A, NM_001178003.2:c.177G>A, NM_001178003.1:c.177G>A

Select item 14882380846.

rs1488238084 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACC>- [Show Flanks]
Chromosome:: 12:121954249 (GRCh38)
12:122392155 (GRCh37)
Canonical SPDI:: NC_000012.12:121954246:CCACC:CC
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.01031/119 (GoESP)
HGVS:: NC_000012.12:g.121954249_121954251del, NC_000012.11:g.122392155_122392157del, NG_021364.2:g.40693_40695del, NM_144668.6:c.1450_1452del, NM_144668.5:c.1450_1452del, NM_001178003.2:c.1450_1452del, NM_001178003.1:c.1450_1452del, NP_653269.3:p.Thr484del, NP_001171474.1:p.Thr484del

Select item 14866662267.

rs1486666226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:121968096 (GRCh38)
12:122406002 (GRCh37)
Canonical SPDI:: NC_000012.12:121968095:T:G
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121968096T>G, NC_000012.11:g.122406002T>G, NG_021364.2:g.54540T>G, NM_144668.6:c.2698T>G, NM_144668.5:c.2698T>G, NM_001178003.2:c.2698T>G, NM_001178003.1:c.2698T>G, NP_653269.3:p.Ser900Ala, NP_001171474.1:p.Ser900Ala

Select item 14862718168.

rs1486271816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:122003755 (GRCh38)
12:122441661 (GRCh37)
Canonical SPDI:: NC_000012.12:122003754:T:A
Gene:: CFAP251 (Varview), LOC124903038 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122003755T>A, NC_000012.11:g.122441661T>A, NG_021364.2:g.90199T>A, NM_144668.6:c.3441T>A, NM_144668.5:c.3441T>A, NP_653269.3:p.Asp1147Glu

Select item 14862203079.

rs1486220307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121975552 (GRCh38)
12:122413458 (GRCh37)
Canonical SPDI:: NC_000012.12:121975551:A:G
Gene:: CFAP251 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121975552A>G, NC_000012.11:g.122413458A>G, NG_021364.2:g.61996A>G, NM_144668.6:c.2873A>G, NM_144668.5:c.2873A>G, NP_653269.3:p.Asp958Gly

Select item 148613740110.

rs1486137401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:121967010 (GRCh38)
12:122404916 (GRCh37)
Canonical SPDI:: NC_000012.12:121967009:C:G
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121967010C>G, NC_000012.11:g.122404916C>G, NG_021364.2:g.53454C>G, NM_144668.6:c.2548C>G, NM_144668.5:c.2548C>G, NM_001178003.2:c.2548C>G, NM_001178003.1:c.2548C>G, NP_653269.3:p.Pro850Ala, NP_001171474.1:p.Pro850Ala

Select item 148505817111.

rs1485058171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:121921411 (GRCh38)
12:122359317 (GRCh37)
Canonical SPDI:: NC_000012.12:121921410:C:G
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121921411C>G, NC_000012.11:g.122359317C>G, NG_021364.2:g.7855C>G, NM_144668.6:c.106C>G, NM_144668.5:c.106C>G, NM_001178003.2:c.106C>G, NM_001178003.1:c.106C>G, NP_653269.3:p.Pro36Ala, NP_001171474.1:p.Pro36Ala

Select item 148440337212.

rs1484403372 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACAGAGGGGACAGTTTACATTCTT>- [Show Flanks]
Chromosome:: 12:121958965 (GRCh38)
12:122396871 (GRCh37)
Canonical SPDI:: NC_000012.12:121958961:CTTTACAGAGGGGACAGTTTACATTCTT:CTT
Gene:: CFAP251 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121958965_121958989del, NC_000012.11:g.122396871_122396895del, NG_021364.2:g.45409_45433del, NM_144668.6:c.2004_2028del, NM_144668.5:c.2004_2028del, NM_001178003.2:c.2004_2028del, NM_001178003.1:c.2004_2028del, NP_653269.3:p.Phe668fs, NP_001171474.1:p.Phe668fs

Select item 148276516613.

rs1482765166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122001580 (GRCh38)
12:122439486 (GRCh37)
Canonical SPDI:: NC_000012.12:122001579:G:A
Gene:: CFAP251 (Varview), LOC124903038 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.122001580G>A, NC_000012.11:g.122439486G>A, NG_021364.2:g.88024G>A, NM_144668.6:c.3319G>A, NM_144668.5:c.3319G>A, NP_653269.3:p.Ala1107Thr

Select item 148232377514.

rs1482323775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121999716 (GRCh38)
12:122437622 (GRCh37)
Canonical SPDI:: NC_000012.12:121999715:A:G
Gene:: CFAP251 (Varview), LOC124903038 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121999716A>G, NC_000012.11:g.122437622A>G, NG_021364.2:g.86160A>G, NM_144668.6:c.3007A>G, NM_144668.5:c.3007A>G, NP_653269.3:p.Ile1003Val

Select item 148207651815.

rs1482076518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:121942584 (GRCh38)
12:122380490 (GRCh37)
Canonical SPDI:: NC_000012.12:121942583:T:G
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.121942584T>G, NC_000012.11:g.122380490T>G, NG_021364.2:g.29028T>G, NM_144668.6:c.1049T>G, NM_144668.5:c.1049T>G, NM_001178003.2:c.1049T>G, NM_001178003.1:c.1049T>G, NP_653269.3:p.Met350Arg, NP_001171474.1:p.Met350Arg

Select item 148146758216.

rs1481467582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121958458 (GRCh38)
12:122396364 (GRCh37)
Canonical SPDI:: NC_000012.12:121958457:A:G
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.121958458A>G, NC_000012.11:g.122396364A>G, NG_021364.2:g.44902A>G, NM_144668.6:c.1917A>G, NM_144668.5:c.1917A>G, NM_001178003.2:c.1917A>G, NM_001178003.1:c.1917A>G

Select item 148117038317.

rs1481170383 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:121954172 (GRCh38)
12:122392078 (GRCh37)
Canonical SPDI:: NC_000012.12:121954171:T:C
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.121954172T>C, NC_000012.11:g.122392078T>C, NG_021364.2:g.40616T>C, NM_144668.6:c.1373T>C, NM_144668.5:c.1373T>C, NM_001178003.2:c.1373T>C, NM_001178003.1:c.1373T>C, NP_653269.3:p.Leu458Ser, NP_001171474.1:p.Leu458Ser

Select item 148093148418.

rs1480931484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121954241 (GRCh38)
12:122392147 (GRCh37)
Canonical SPDI:: NC_000012.12:121954240:C:T
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.121954241C>T, NC_000012.11:g.122392147C>T, NG_021364.2:g.40685C>T, NM_144668.6:c.1442C>T, NM_144668.5:c.1442C>T, NM_001178003.2:c.1442C>T, NM_001178003.1:c.1442C>T, NP_653269.3:p.Ser481Phe, NP_001171474.1:p.Ser481Phe

Select item 148035702519.

rs1480357025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121975564 (GRCh38)
12:122413470 (GRCh37)
Canonical SPDI:: NC_000012.12:121975563:A:G
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121975564A>G, NC_000012.11:g.122413470A>G, NG_021364.2:g.62008A>G, NM_144668.6:c.2885A>G, NM_144668.5:c.2885A>G, NP_653269.3:p.Tyr962Cys

Select item 147887427320.

rs1478874273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:121921584 (GRCh38)
12:122359490 (GRCh37)
Canonical SPDI:: NC_000012.12:121921583:G:C
Gene:: CFAP251 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.121921584G>C, NC_000012.11:g.122359490G>C, NG_021364.2:g.8028G>C, NM_144668.6:c.279G>C, NM_144668.5:c.279G>C, NM_001178003.2:c.279G>C, NM_001178003.1:c.279G>C, NP_653269.3:p.Gln93His, NP_001171474.1:p.Gln93His

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