SNP Links for Protein (Select 635372918) - SNP

Select item 14896742831.

rs1489674283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185190902 (GRCh38)
4:186112056 (GRCh37)
Canonical SPDI:: NC_000004.12:185190901:T:C
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.185190902T>C, NC_000004.11:g.186112056T>C, XM_017008486.3:c.295A>G, XM_017008486.2:c.295A>G, XM_017008486.1:c.295A>G, XM_017008484.3:c.295A>G, XM_017008484.2:c.295A>G, XM_017008484.1:c.295A>G, XM_017008483.3:c.295A>G, XM_017008483.2:c.295A>G, XM_017008483.1:c.295A>G, NM_020827.3:c.295A>G, NM_020827.2:c.295A>G, NM_020827.1:c.295A>G, NM_001292033.2:c.295A>G, NM_001292033.1:c.295A>G, XM_047416015.1:c.295A>G, XM_047416016.1:c.295A>G, XP_016863975.1:p.Arg99Gly, XP_016863973.1:p.Arg99Gly, XP_016863972.1:p.Arg99Gly, NP_065878.1:p.Arg99Gly, NP_001278962.1:p.Arg99Gly, XP_047271971.1:p.Arg99Gly, XP_047271972.1:p.Arg99Gly

Select item 14854304242.

rs1485430424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185190702 (GRCh38)
4:186111856 (GRCh37)
Canonical SPDI:: NC_000004.12:185190701:C:T
Gene:: CFAP97 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185190702C>T, NC_000004.11:g.186111856C>T, XM_017008486.3:c.495G>A, XM_017008486.2:c.495G>A, XM_017008486.1:c.495G>A, XM_017008484.3:c.495G>A, XM_017008484.2:c.495G>A, XM_017008484.1:c.495G>A, XM_017008483.3:c.495G>A, XM_017008483.2:c.495G>A, XM_017008483.1:c.495G>A, NM_020827.3:c.495G>A, NM_020827.2:c.495G>A, NM_020827.1:c.495G>A, NM_001292033.2:c.495G>A, NM_001292033.1:c.495G>A, XM_047416015.1:c.495G>A, XM_047416016.1:c.495G>A

Select item 14852155503.

rs1485215550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:185190153 (GRCh38)
4:186111307 (GRCh37)
Canonical SPDI:: NC_000004.12:185190152:A:T
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.185190153A>T, NC_000004.11:g.186111307A>T, XM_017008486.3:c.1044T>A, XM_017008486.2:c.1044T>A, XM_017008486.1:c.1044T>A, XM_017008484.3:c.1044T>A, XM_017008484.2:c.1044T>A, XM_017008484.1:c.1044T>A, XM_017008483.3:c.1044T>A, XM_017008483.2:c.1044T>A, XM_017008483.1:c.1044T>A, NM_020827.3:c.1044T>A, NM_020827.2:c.1044T>A, NM_020827.1:c.1044T>A, NM_001292033.2:c.1044T>A, NM_001292033.1:c.1044T>A, XM_047416015.1:c.1044T>A, XM_047416016.1:c.1044T>A, XP_016863975.1:p.His348Gln, XP_016863973.1:p.His348Gln, XP_016863972.1:p.His348Gln, NP_065878.1:p.His348Gln, NP_001278962.1:p.His348Gln, XP_047271971.1:p.His348Gln, XP_047271972.1:p.His348Gln

Select item 14848893154.

rs1484889315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:185191173 (GRCh38)
4:186112327 (GRCh37)
Canonical SPDI:: NC_000004.12:185191172:T:A
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185191173T>A, NC_000004.11:g.186112327T>A, XM_017008486.3:c.24A>T, XM_017008486.2:c.24A>T, XM_017008486.1:c.24A>T, XM_017008484.3:c.24A>T, XM_017008484.2:c.24A>T, XM_017008484.1:c.24A>T, XM_017008483.3:c.24A>T, XM_017008483.2:c.24A>T, XM_017008483.1:c.24A>T, NM_020827.3:c.24A>T, NM_020827.2:c.24A>T, NM_020827.1:c.24A>T, NM_001292033.2:c.24A>T, NM_001292033.1:c.24A>T, XM_047416015.1:c.24A>T, XM_047416016.1:c.24A>T, XP_016863975.1:p.Leu8Phe, XP_016863973.1:p.Leu8Phe, XP_016863972.1:p.Leu8Phe, NP_065878.1:p.Leu8Phe, NP_001278962.1:p.Leu8Phe, XP_047271971.1:p.Leu8Phe, XP_047271972.1:p.Leu8Phe

Select item 14790984665.

rs1479098466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185191180 (GRCh38)
4:186112334 (GRCh37)
Canonical SPDI:: NC_000004.12:185191179:T:C
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185191180T>C, NC_000004.11:g.186112334T>C, XM_017008486.3:c.17A>G, XM_017008486.2:c.17A>G, XM_017008486.1:c.17A>G, XM_017008484.3:c.17A>G, XM_017008484.2:c.17A>G, XM_017008484.1:c.17A>G, XM_017008483.3:c.17A>G, XM_017008483.2:c.17A>G, XM_017008483.1:c.17A>G, NM_020827.3:c.17A>G, NM_020827.2:c.17A>G, NM_020827.1:c.17A>G, NM_001292033.2:c.17A>G, NM_001292033.1:c.17A>G, XM_047416015.1:c.17A>G, XM_047416016.1:c.17A>G, XP_016863975.1:p.Asp6Gly, XP_016863973.1:p.Asp6Gly, XP_016863972.1:p.Asp6Gly, NP_065878.1:p.Asp6Gly, NP_001278962.1:p.Asp6Gly, XP_047271971.1:p.Asp6Gly, XP_047271972.1:p.Asp6Gly

Select item 14760764526.

rs1476076452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185190318 (GRCh38)
4:186111472 (GRCh37)
Canonical SPDI:: NC_000004.12:185190317:T:C
Gene:: CFAP97 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185190318T>C, NC_000004.11:g.186111472T>C, XM_017008486.3:c.879A>G, XM_017008486.2:c.879A>G, XM_017008486.1:c.879A>G, XM_017008484.3:c.879A>G, XM_017008484.2:c.879A>G, XM_017008484.1:c.879A>G, XM_017008483.3:c.879A>G, XM_017008483.2:c.879A>G, XM_017008483.1:c.879A>G, NM_020827.3:c.879A>G, NM_020827.2:c.879A>G, NM_020827.1:c.879A>G, NM_001292033.2:c.879A>G, NM_001292033.1:c.879A>G, XM_047416015.1:c.879A>G, XM_047416016.1:c.879A>G

Select item 14750974577.

rs1475097457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:185190646 (GRCh38)
4:186111800 (GRCh37)
Canonical SPDI:: NC_000004.12:185190645:G:C
Gene:: CFAP97 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185190646G>C, NC_000004.11:g.186111800G>C, XM_017008486.3:c.551C>G, XM_017008486.2:c.551C>G, XM_017008486.1:c.551C>G, XM_017008484.3:c.551C>G, XM_017008484.2:c.551C>G, XM_017008484.1:c.551C>G, XM_017008483.3:c.551C>G, XM_017008483.2:c.551C>G, XM_017008483.1:c.551C>G, NM_020827.3:c.551C>G, NM_020827.2:c.551C>G, NM_020827.1:c.551C>G, NM_001292033.2:c.551C>G, NM_001292033.1:c.551C>G, XM_047416015.1:c.551C>G, XM_047416016.1:c.551C>G, XP_016863975.1:p.Ser184Ter, XP_016863973.1:p.Ser184Ter, XP_016863972.1:p.Ser184Ter, NP_065878.1:p.Ser184Ter, NP_001278962.1:p.Ser184Ter, XP_047271971.1:p.Ser184Ter, XP_047271972.1:p.Ser184Ter

Select item 14699947968.

rs1469994796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185190679 (GRCh38)
4:186111833 (GRCh37)
Canonical SPDI:: NC_000004.12:185190678:G:A
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185190679G>A, NC_000004.11:g.186111833G>A, XM_017008486.3:c.518C>T, XM_017008486.2:c.518C>T, XM_017008486.1:c.518C>T, XM_017008484.3:c.518C>T, XM_017008484.2:c.518C>T, XM_017008484.1:c.518C>T, XM_017008483.3:c.518C>T, XM_017008483.2:c.518C>T, XM_017008483.1:c.518C>T, NM_020827.3:c.518C>T, NM_020827.2:c.518C>T, NM_020827.1:c.518C>T, NM_001292033.2:c.518C>T, NM_001292033.1:c.518C>T, XM_047416015.1:c.518C>T, XM_047416016.1:c.518C>T, XP_016863975.1:p.Ser173Phe, XP_016863973.1:p.Ser173Phe, XP_016863972.1:p.Ser173Phe, NP_065878.1:p.Ser173Phe, NP_001278962.1:p.Ser173Phe, XP_047271971.1:p.Ser173Phe, XP_047271972.1:p.Ser173Phe

Select item 14687383689.

rs1468738368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:185175927 (GRCh38)
4:186097081 (GRCh37)
Canonical SPDI:: NC_000004.12:185175926:C:A,NC_000004.12:185175926:C:G
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185175927C>A, NC_000004.12:g.185175927C>G, NC_000004.11:g.186097081C>A, NC_000004.11:g.186097081C>G, XM_017008486.3:c.1179G>T, XM_017008486.3:c.1179G>C, XM_017008486.2:c.1179G>T, XM_017008486.2:c.1179G>C, XM_017008486.1:c.1179G>T, XM_017008486.1:c.1179G>C, XM_017008484.3:c.1179G>T, XM_017008484.3:c.1179G>C, XM_017008484.2:c.1179G>T, XM_017008484.2:c.1179G>C, XM_017008484.1:c.1179G>T, XM_017008484.1:c.1179G>C, XM_017008483.3:c.1179G>T, XM_017008483.3:c.1179G>C, XM_017008483.2:c.1179G>T, XM_017008483.2:c.1179G>C, XM_017008483.1:c.1179G>T, XM_017008483.1:c.1179G>C, NM_020827.3:c.1179G>T, NM_020827.3:c.1179G>C, NM_020827.2:c.1179G>T, NM_020827.2:c.1179G>C, NM_020827.1:c.1179G>T, NM_020827.1:c.1179G>C, NM_001292033.2:c.1179G>T, NM_001292033.2:c.1179G>C, NM_001292033.1:c.1179G>T, NM_001292033.1:c.1179G>C, XM_047416015.1:c.1179G>T, XM_047416015.1:c.1179G>C, XM_047416016.1:c.1179G>T, XM_047416016.1:c.1179G>C, XP_016863975.1:p.Arg393Ser, XP_016863975.1:p.Arg393Ser, XP_016863973.1:p.Arg393Ser, XP_016863973.1:p.Arg393Ser, XP_016863972.1:p.Arg393Ser, XP_016863972.1:p.Arg393Ser, NP_065878.1:p.Arg393Ser, NP_065878.1:p.Arg393Ser, NP_001278962.1:p.Arg393Ser, NP_001278962.1:p.Arg393Ser, XP_047271971.1:p.Arg393Ser, XP_047271971.1:p.Arg393Ser, XP_047271972.1:p.Arg393Ser, XP_047271972.1:p.Arg393Ser

Select item 146840444910.

rs1468404449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:185190406 (GRCh38)
4:186111560 (GRCh37)
Canonical SPDI:: NC_000004.12:185190405:C:G,NC_000004.12:185190405:C:T
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.185190406C>G, NC_000004.12:g.185190406C>T, NC_000004.11:g.186111560C>G, NC_000004.11:g.186111560C>T, XM_017008486.3:c.791G>C, XM_017008486.3:c.791G>A, XM_017008486.2:c.791G>C, XM_017008486.2:c.791G>A, XM_017008486.1:c.791G>C, XM_017008486.1:c.791G>A, XM_017008484.3:c.791G>C, XM_017008484.3:c.791G>A, XM_017008484.2:c.791G>C, XM_017008484.2:c.791G>A, XM_017008484.1:c.791G>C, XM_017008484.1:c.791G>A, XM_017008483.3:c.791G>C, XM_017008483.3:c.791G>A, XM_017008483.2:c.791G>C, XM_017008483.2:c.791G>A, XM_017008483.1:c.791G>C, XM_017008483.1:c.791G>A, NM_020827.3:c.791G>C, NM_020827.3:c.791G>A, NM_020827.2:c.791G>C, NM_020827.2:c.791G>A, NM_020827.1:c.791G>C, NM_020827.1:c.791G>A, NM_001292033.2:c.791G>C, NM_001292033.2:c.791G>A, NM_001292033.1:c.791G>C, NM_001292033.1:c.791G>A, XM_047416015.1:c.791G>C, XM_047416015.1:c.791G>A, XM_047416016.1:c.791G>C, XM_047416016.1:c.791G>A, XP_016863975.1:p.Ser264Thr, XP_016863975.1:p.Ser264Asn, XP_016863973.1:p.Ser264Thr, XP_016863973.1:p.Ser264Asn, XP_016863972.1:p.Ser264Thr, XP_016863972.1:p.Ser264Asn, NP_065878.1:p.Ser264Thr, NP_065878.1:p.Ser264Asn, NP_001278962.1:p.Ser264Thr, NP_001278962.1:p.Ser264Asn, XP_047271971.1:p.Ser264Thr, XP_047271971.1:p.Ser264Asn, XP_047271972.1:p.Ser264Thr, XP_047271972.1:p.Ser264Asn

Select item 146675856011.

rs1466758560 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:185176027 (GRCh38)
4:186097181 (GRCh37)
Canonical SPDI:: NC_000004.12:185176026:CC:C
Gene:: CFAP97 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185176028del, NC_000004.11:g.186097182del, XM_017008486.3:c.1079del, XM_017008486.2:c.1079del, XM_017008486.1:c.1079del, XM_017008484.3:c.1079del, XM_017008484.2:c.1079del, XM_017008484.1:c.1079del, XM_017008483.3:c.1079del, XM_017008483.2:c.1079del, XM_017008483.1:c.1079del, NM_020827.3:c.1079del, NM_020827.2:c.1079del, NM_020827.1:c.1079del, NM_001292033.2:c.1079del, NM_001292033.1:c.1079del, XM_047416015.1:c.1079del, XM_047416016.1:c.1079del, XP_016863975.1:p.Gly360fs, XP_016863973.1:p.Gly360fs, XP_016863972.1:p.Gly360fs, NP_065878.1:p.Gly360fs, NP_001278962.1:p.Gly360fs, XP_047271971.1:p.Gly360fs, XP_047271972.1:p.Gly360fs

Select item 146630515712.

rs1466305157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185190724 (GRCh38)
4:186111878 (GRCh37)
Canonical SPDI:: NC_000004.12:185190723:A:G
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.185190724A>G, NC_000004.11:g.186111878A>G, XM_017008486.3:c.473T>C, XM_017008486.2:c.473T>C, XM_017008486.1:c.473T>C, XM_017008484.3:c.473T>C, XM_017008484.2:c.473T>C, XM_017008484.1:c.473T>C, XM_017008483.3:c.473T>C, XM_017008483.2:c.473T>C, XM_017008483.1:c.473T>C, NM_020827.3:c.473T>C, NM_020827.2:c.473T>C, NM_020827.1:c.473T>C, NM_001292033.2:c.473T>C, NM_001292033.1:c.473T>C, XM_047416015.1:c.473T>C, XM_047416016.1:c.473T>C, XP_016863975.1:p.Val158Ala, XP_016863973.1:p.Val158Ala, XP_016863972.1:p.Val158Ala, NP_065878.1:p.Val158Ala, NP_001278962.1:p.Val158Ala, XP_047271971.1:p.Val158Ala, XP_047271972.1:p.Val158Ala

Select item 146595282013.

rs1465952820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:185190405 (GRCh38)
4:186111559 (GRCh37)
Canonical SPDI:: NC_000004.12:185190404:G:C
Gene:: CFAP97 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.185190405G>C, NC_000004.11:g.186111559G>C, XM_017008486.3:c.792C>G, XM_017008486.2:c.792C>G, XM_017008486.1:c.792C>G, XM_017008484.3:c.792C>G, XM_017008484.2:c.792C>G, XM_017008484.1:c.792C>G, XM_017008483.3:c.792C>G, XM_017008483.2:c.792C>G, XM_017008483.1:c.792C>G, NM_020827.3:c.792C>G, NM_020827.2:c.792C>G, NM_020827.1:c.792C>G, NM_001292033.2:c.792C>G, NM_001292033.1:c.792C>G, XM_047416015.1:c.792C>G, XM_047416016.1:c.792C>G, XP_016863975.1:p.Ser264Arg, XP_016863973.1:p.Ser264Arg, XP_016863972.1:p.Ser264Arg, NP_065878.1:p.Ser264Arg, NP_001278962.1:p.Ser264Arg, XP_047271971.1:p.Ser264Arg, XP_047271972.1:p.Ser264Arg

Select item 146271287314.

rs1462712873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185190764 (GRCh38)
4:186111918 (GRCh37)
Canonical SPDI:: NC_000004.12:185190763:A:G
Gene:: CFAP97 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.185190764A>G, NC_000004.11:g.186111918A>G, XM_017008486.3:c.433T>C, XM_017008486.2:c.433T>C, XM_017008486.1:c.433T>C, XM_017008484.3:c.433T>C, XM_017008484.2:c.433T>C, XM_017008484.1:c.433T>C, XM_017008483.3:c.433T>C, XM_017008483.2:c.433T>C, XM_017008483.1:c.433T>C, NM_020827.3:c.433T>C, NM_020827.2:c.433T>C, NM_020827.1:c.433T>C, NM_001292033.2:c.433T>C, NM_001292033.1:c.433T>C, XM_047416015.1:c.433T>C, XM_047416016.1:c.433T>C, XP_016863975.1:p.Tyr145His, XP_016863973.1:p.Tyr145His, XP_016863972.1:p.Tyr145His, NP_065878.1:p.Tyr145His, NP_001278962.1:p.Tyr145His, XP_047271971.1:p.Tyr145His, XP_047271972.1:p.Tyr145His

Select item 146227746815.

rs1462277468 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 4:185190878 (GRCh38)
4:186112032 (GRCh37)
Canonical SPDI:: NC_000004.12:185190877:T:
Gene:: CFAP97 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.185190878del, NC_000004.11:g.186112032del, XM_017008486.3:c.319del, XM_017008486.2:c.319del, XM_017008486.1:c.319del, XM_017008484.3:c.319del, XM_017008484.2:c.319del, XM_017008484.1:c.319del, XM_017008483.3:c.319del, XM_017008483.2:c.319del, XM_017008483.1:c.319del, NM_020827.3:c.319del, NM_020827.2:c.319del, NM_020827.1:c.319del, NM_001292033.2:c.319del, NM_001292033.1:c.319del, XM_047416015.1:c.319del, XM_047416016.1:c.319del, XP_016863975.1:p.Thr107fs, XP_016863973.1:p.Thr107fs, XP_016863972.1:p.Thr107fs, NP_065878.1:p.Thr107fs, NP_001278962.1:p.Thr107fs, XP_047271971.1:p.Thr107fs, XP_047271972.1:p.Thr107fs

Select item 146132059716.

rs1461320597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:185190814 (GRCh38)
4:186111968 (GRCh37)
Canonical SPDI:: NC_000004.12:185190813:T:C,NC_000004.12:185190813:T:G
Gene:: CFAP97 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185190814T>C, NC_000004.12:g.185190814T>G, NC_000004.11:g.186111968T>C, NC_000004.11:g.186111968T>G, XM_017008486.3:c.383A>G, XM_017008486.3:c.383A>C, XM_017008486.2:c.383A>G, XM_017008486.2:c.383A>C, XM_017008486.1:c.383A>G, XM_017008486.1:c.383A>C, XM_017008484.3:c.383A>G, XM_017008484.3:c.383A>C, XM_017008484.2:c.383A>G, XM_017008484.2:c.383A>C, XM_017008484.1:c.383A>G, XM_017008484.1:c.383A>C, XM_017008483.3:c.383A>G, XM_017008483.3:c.383A>C, XM_017008483.2:c.383A>G, XM_017008483.2:c.383A>C, XM_017008483.1:c.383A>G, XM_017008483.1:c.383A>C, NM_020827.3:c.383A>G, NM_020827.3:c.383A>C, NM_020827.2:c.383A>G, NM_020827.2:c.383A>C, NM_020827.1:c.383A>G, NM_020827.1:c.383A>C, NM_001292033.2:c.383A>G, NM_001292033.2:c.383A>C, NM_001292033.1:c.383A>G, NM_001292033.1:c.383A>C, XM_047416015.1:c.383A>G, XM_047416015.1:c.383A>C, XM_047416016.1:c.383A>G, XM_047416016.1:c.383A>C, XP_016863975.1:p.Glu128Gly, XP_016863975.1:p.Glu128Ala, XP_016863973.1:p.Glu128Gly, XP_016863973.1:p.Glu128Ala, XP_016863972.1:p.Glu128Gly, XP_016863972.1:p.Glu128Ala, NP_065878.1:p.Glu128Gly, NP_065878.1:p.Glu128Ala, NP_001278962.1:p.Glu128Gly, NP_001278962.1:p.Glu128Ala, XP_047271971.1:p.Glu128Gly, XP_047271971.1:p.Glu128Ala, XP_047271972.1:p.Glu128Gly, XP_047271972.1:p.Glu128Ala

Select item 146114948817.

rs1461149488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:185175859 (GRCh38)
4:186097013 (GRCh37)
Canonical SPDI:: NC_000004.12:185175858:T:A
Gene:: CFAP97 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185175859T>A, NC_000004.11:g.186097013T>A, XM_017008486.3:c.1247A>T, XM_017008486.2:c.1247A>T, XM_017008486.1:c.1247A>T, XM_017008484.3:c.1247A>T, XM_017008484.2:c.1247A>T, XM_017008484.1:c.1247A>T, XM_017008483.3:c.1247A>T, XM_017008483.2:c.1247A>T, XM_017008483.1:c.1247A>T, NM_020827.3:c.1247A>T, NM_020827.2:c.1247A>T, NM_020827.1:c.1247A>T, NM_001292033.2:c.1247A>T, NM_001292033.1:c.1247A>T, XM_047416015.1:c.1247A>T, XM_047416016.1:c.1247A>T, XP_016863975.1:p.Asp416Val, XP_016863973.1:p.Asp416Val, XP_016863972.1:p.Asp416Val, NP_065878.1:p.Asp416Val, NP_001278962.1:p.Asp416Val, XP_047271971.1:p.Asp416Val, XP_047271972.1:p.Asp416Val

Select item 146060351518.

rs1460603515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185190568 (GRCh38)
4:186111722 (GRCh37)
Canonical SPDI:: NC_000004.12:185190567:T:C
Gene:: CFAP97 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185190568T>C, NC_000004.11:g.186111722T>C, XM_017008486.3:c.629A>G, XM_017008486.2:c.629A>G, XM_017008486.1:c.629A>G, XM_017008484.3:c.629A>G, XM_017008484.2:c.629A>G, XM_017008484.1:c.629A>G, XM_017008483.3:c.629A>G, XM_017008483.2:c.629A>G, XM_017008483.1:c.629A>G, NM_020827.3:c.629A>G, NM_020827.2:c.629A>G, NM_020827.1:c.629A>G, NM_001292033.2:c.629A>G, NM_001292033.1:c.629A>G, XM_047416015.1:c.629A>G, XM_047416016.1:c.629A>G, XP_016863975.1:p.His210Arg, XP_016863973.1:p.His210Arg, XP_016863972.1:p.His210Arg, NP_065878.1:p.His210Arg, NP_001278962.1:p.His210Arg, XP_047271971.1:p.His210Arg, XP_047271972.1:p.His210Arg

Select item 145968003119.

rs1459680031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:185190965 (GRCh38)
4:186112119 (GRCh37)
Canonical SPDI:: NC_000004.12:185190964:C:G
Gene:: CFAP97 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.185190965C>G, NC_000004.11:g.186112119C>G, XM_017008486.3:c.232G>C, XM_017008486.2:c.232G>C, XM_017008486.1:c.232G>C, XM_017008484.3:c.232G>C, XM_017008484.2:c.232G>C, XM_017008484.1:c.232G>C, XM_017008483.3:c.232G>C, XM_017008483.2:c.232G>C, XM_017008483.1:c.232G>C, NM_020827.3:c.232G>C, NM_020827.2:c.232G>C, NM_020827.1:c.232G>C, NM_001292033.2:c.232G>C, NM_001292033.1:c.232G>C, XM_047416015.1:c.232G>C, XM_047416016.1:c.232G>C, XP_016863975.1:p.Glu78Gln, XP_016863973.1:p.Glu78Gln, XP_016863972.1:p.Glu78Gln, NP_065878.1:p.Glu78Gln, NP_001278962.1:p.Glu78Gln, XP_047271971.1:p.Glu78Gln, XP_047271972.1:p.Glu78Gln

Select item 145574673020.

rs1455746730 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:185176022 (GRCh38)
4:186097176 (GRCh37)
Canonical SPDI:: NC_000004.12:185176021:G:
Gene:: CFAP97 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000043/1 (ALFA)
-=0.000017/4 (GnomAD_exomes)
-=0.000071/10 (GnomAD)
-=0.000079/21 (TOPMED)
HGVS:: NC_000004.12:g.185176022del, NC_000004.11:g.186097176del, XM_017008486.3:c.1084del, XM_017008486.2:c.1084del, XM_017008486.1:c.1084del, XM_017008484.3:c.1084del, XM_017008484.2:c.1084del, XM_017008484.1:c.1084del, XM_017008483.3:c.1084del, XM_017008483.2:c.1084del, XM_017008483.1:c.1084del, NM_020827.3:c.1084del, NM_020827.2:c.1084del, NM_020827.1:c.1084del, NM_001292033.2:c.1084del, NM_001292033.1:c.1084del, XM_047416015.1:c.1084del, XM_047416016.1:c.1084del, XP_016863975.1:p.Gln362fs, XP_016863973.1:p.Gln362fs, XP_016863972.1:p.Gln362fs, NP_065878.1:p.Gln362fs, NP_001278962.1:p.Gln362fs, XP_047271971.1:p.Gln362fs, XP_047271972.1:p.Gln362fs

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