Canonical Allele Identifier: CA2839631

Gene: WFS1

Linked Data

• dbSNP Id: rs778958194
• ExAC: 4:6303686 A / C
• gnomAD v2: 4-6303686-A-C
• gnomAD v3: 4-6301959-A-C
• gnomAD v4: 4-6301959-A-C
• MyVariant Identifiers: chr4:g.6303686A>C (hg19) ; chr4:g.6301959A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301959A>C , CM000666.2:g.6301959A>C	GRCh38
NC_000004.11:g.6303686A>C , CM000666.1:g.6303686A>C	GRCh37
NC_000004.10:g.6354587A>C	NCBI36
NG_011700.1:g.37110A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2200A>C	ENSP00000507852.1:p.Met734Leu
ENST00000683395.1:c.2141A>C
ENST00000684087.1:c.2164A>C	ENSP00000506978.1:p.Met722Leu
ENST00000506362.2:c.1915A>C	ENSP00000424103.2:p.Met639Leu
ENST00000673642.1:c.1823A>C	ENSP00000501242.1:n.1823A>C
ENST00000673991.1:c.2200A>C	ENSP00000501033.1:p.Met734Leu
ENST00000226760.5:c.2164A>C MANE Select	ENSP00000226760.1:p.Met722Leu
ENST00000503569.5:c.2164A>C	ENSP00000423337.1:p.Met722Leu
ENST00000507765.1:n.2349A>C
NM_001145853.1:c.2164A>C	NP_001139325.1:p.Met722Leu
NM_006005.3:c.2164A>C MANE Select	NP_005996.2:p.Met722Leu
XM_017008586.1:c.2173A>C	XP_016864075.1:p.Met725Leu