Canonical Allele Identifier: CA2839587

Gene: WFS1

Linked Data

• ClinVar Variation Id: 427196
• ClinVar RCV Id: RCV000490103
• dbSNP Id: rs760938537
• ExAC: 4:6303583 G / C
• gnomAD v2: 4-6303583-G-C
• gnomAD v3: 4-6301856-G-C
• gnomAD v4: 4-6301856-G-C
• MyVariant Identifiers: chr4:g.6303583G>C (hg19) ; chr4:g.6301856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301856G>C , CM000666.2:g.6301856G>C	GRCh38
NC_000004.11:g.6303583G>C , CM000666.1:g.6303583G>C	GRCh37
NC_000004.10:g.6354484G>C	NCBI36
NG_011700.1:g.37007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2097G>C	ENSP00000507852.1:p.Gln699His
ENST00000683395.1:c.2038G>C
ENST00000684087.1:c.2061G>C	ENSP00000506978.1:p.Gln687His
ENST00000506362.2:c.1812G>C	ENSP00000424103.2:p.Gln604His
ENST00000673642.1:c.1720G>C	ENSP00000501242.1:n.1720G>C
ENST00000673991.1:c.2097G>C	ENSP00000501033.1:p.Gln699His
ENST00000226760.5:c.2061G>C MANE Select	ENSP00000226760.1:p.Gln687His
ENST00000503569.5:c.2061G>C	ENSP00000423337.1:p.Gln687His
ENST00000507765.1:n.2246G>C
NM_001145853.1:c.2061G>C	NP_001139325.1:p.Gln687His
NM_006005.3:c.2061G>C MANE Select	NP_005996.2:p.Gln687His
XM_017008586.1:c.2070G>C	XP_016864075.1:p.Gln690His