Canonical Allele Identifier: CA2839538

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1382930
• ClinVar RCV Id: RCV001922339
• dbSNP Id: rs140213376
• ExAC: 4:6303422 A / C
• gnomAD v2: 4-6303422-A-C
• gnomAD v3: 4-6301695-A-C
• gnomAD v4: 4-6301695-A-C
• MyVariant Identifiers: chr4:g.6303422A>C (hg19) ; chr4:g.6301695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301695A>C , CM000666.2:g.6301695A>C	GRCh38
NC_000004.11:g.6303422A>C , CM000666.1:g.6303422A>C	GRCh37
NC_000004.10:g.6354323A>C	NCBI36
NG_011700.1:g.36846A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1936A>C	ENSP00000507852.1:p.Lys646Gln
ENST00000683395.1:c.1877A>C
ENST00000684087.1:c.1900A>C	ENSP00000506978.1:p.Lys634Gln
ENST00000506362.2:c.1651A>C	ENSP00000424103.2:p.Lys551Gln
ENST00000673642.1:c.1559A>C	ENSP00000501242.1:n.1559A>C
ENST00000673991.1:c.1936A>C	ENSP00000501033.1:p.Lys646Gln
ENST00000226760.5:c.1900A>C MANE Select	ENSP00000226760.1:p.Lys634Gln
ENST00000503569.5:c.1900A>C	ENSP00000423337.1:p.Lys634Gln
ENST00000507765.1:n.2085A>C
NM_001145853.1:c.1900A>C	NP_001139325.1:p.Lys634Gln
NM_006005.3:c.1900A>C MANE Select	NP_005996.2:p.Lys634Gln
XM_017008586.1:c.1909A>C	XP_016864075.1:p.Lys637Gln