Canonical Allele Identifier: CA91798326

Gene: WFS1

Linked Data

• dbSNP Id: rs989517670
• gnomAD v4: 4-6302926-A-C
• MyVariant Identifiers: chr4:g.6304653A>C (hg19) ; chr4:g.6302926A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302926A>C , CM000666.2:g.6302926A>C	GRCh38
NC_000004.11:g.6304653A>C , CM000666.1:g.6304653A>C	GRCh37
NC_000004.10:g.6355554A>C	NCBI36
NG_011700.1:g.38077A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*458A>C	ENSP00000507852.1:n.*458A>C
ENST00000683395.1:c.3108A>C
ENST00000684087.1:c.*458A>C	ENSP00000506978.1:n.*458A>C
ENST00000673991.1:c.*458A>C	ENSP00000501033.1:n.*458A>C
ENST00000226760.5:c.*458A>C MANE Select	ENSP00000226760.1:n.*458A>C
ENST00000507765.1:n.3316A>C
NM_001145853.1:c.*458A>C	NP_001139325.1:n.*458A>C
NM_006005.3:c.*458A>C MANE Select	NP_005996.2:n.*458A>C
XM_017008586.1:c.*458A>C	XP_016864075.1:n.*458A>C
XR_001741566.2:n.2019T>G