Canonical Allele Identifier: CA91798418

Gene: WFS1

Linked Data

• dbSNP Id: rs956449223
• gnomAD v2: 4-6304739-C-T
• gnomAD v3: 4-6303012-C-T
• gnomAD v4: 4-6303012-C-T
• MyVariant Identifiers: chr4:g.6304739C>T (hg19) ; chr4:g.6303012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6303012C>T , CM000666.2:g.6303012C>T	GRCh38
NC_000004.11:g.6304739C>T , CM000666.1:g.6304739C>T	GRCh37
NC_000004.10:g.6355640C>T	NCBI36
NG_011700.1:g.38163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*544C>T	ENSP00000507852.1:n.*544C>T
ENST00000683395.1:c.3194C>T
ENST00000684087.1:c.*544C>T	ENSP00000506978.1:n.*544C>T
ENST00000673991.1:c.*544C>T	ENSP00000501033.1:n.*544C>T
ENST00000226760.5:c.*544C>T MANE Select	ENSP00000226760.1:n.*544C>T
ENST00000507765.1:n.3402C>T
NM_001145853.1:c.*544C>T	NP_001139325.1:n.*544C>T
NM_006005.3:c.*544C>T MANE Select	NP_005996.2:n.*544C>T
XM_017008586.1:c.*544C>T	XP_016864075.1:n.*544C>T
XR_001741566.2:n.1933G>A