Canonical Allele Identifier: CA356177000

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301660-G-C
• MyVariant Identifiers: chr4:g.6303387G>C (hg19) ; chr4:g.6301660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301660G>C , CM000666.2:g.6301660G>C	GRCh38
NC_000004.11:g.6303387G>C , CM000666.1:g.6303387G>C	GRCh37
NC_000004.10:g.6354288G>C	NCBI36
NG_011700.1:g.36811G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1901G>C	ENSP00000507852.1:p.Gly634Ala
ENST00000683395.1:c.1842G>C
ENST00000684087.1:c.1865G>C	ENSP00000506978.1:p.Gly622Ala
ENST00000506362.2:c.1616G>C	ENSP00000424103.2:p.Gly539Ala
ENST00000673642.1:c.1524G>C	ENSP00000501242.1:n.1524G>C
ENST00000673991.1:c.1901G>C	ENSP00000501033.1:p.Gly634Ala
ENST00000226760.5:c.1865G>C MANE Select	ENSP00000226760.1:p.Gly622Ala
ENST00000503569.5:c.1865G>C	ENSP00000423337.1:p.Gly622Ala
ENST00000507765.1:n.2050G>C
NM_001145853.1:c.1865G>C	NP_001139325.1:p.Gly622Ala
NM_006005.3:c.1865G>C MANE Select	NP_005996.2:p.Gly622Ala
XM_017008586.1:c.1874G>C	XP_016864075.1:p.Gly625Ala