Canonical Allele Identifier: CA91796229

Gene: WFS1

Linked Data

• dbSNP Id: rs879134962
• gnomAD v4: 4-6300912-A-C
• MyVariant Identifiers: chr4:g.6302639A>C (hg19) ; chr4:g.6300912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300912A>C , CM000666.2:g.6300912A>C	GRCh38
NC_000004.11:g.6302639A>C , CM000666.1:g.6302639A>C	GRCh37
NC_000004.10:g.6353540A>C	NCBI36
NG_011700.1:g.36063A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1153A>C	ENSP00000507852.1:p.Asn385His
ENST00000683395.1:c.1094A>C
ENST00000684087.1:c.1117A>C	ENSP00000506978.1:p.Asn373His
ENST00000506362.2:c.868A>C	ENSP00000424103.2:p.Asn290His
ENST00000673642.1:c.776A>C	ENSP00000501242.1:p.Glu259Ala
ENST00000673991.1:c.1153A>C	ENSP00000501033.1:p.Asn385His
ENST00000226760.5:c.1117A>C MANE Select	ENSP00000226760.1:p.Asn373His
ENST00000503569.5:c.1117A>C	ENSP00000423337.1:p.Asn373His
ENST00000506362.1:c.750A>C
ENST00000507765.1:n.1302A>C
NM_001145853.1:c.1117A>C	NP_001139325.1:p.Asn373His
NM_006005.3:c.1117A>C MANE Select	NP_005996.2:p.Asn373His
XM_017008586.1:c.1126A>C	XP_016864075.1:p.Asn376His