Canonical Allele Identifier: CA356176956

Gene: WFS1

Linked Data

• dbSNP Id: rs1560420354
• gnomAD v4: 4-6301644-A-C
• MyVariant Identifiers: chr4:g.6303371A>C (hg19) ; chr4:g.6301644A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301644A>C , CM000666.2:g.6301644A>C	GRCh38
NC_000004.11:g.6303371A>C , CM000666.1:g.6303371A>C	GRCh37
NC_000004.10:g.6354272A>C	NCBI36
NG_011700.1:g.36795A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1885A>C	ENSP00000507852.1:p.Ser629Arg
ENST00000683395.1:c.1826A>C
ENST00000684087.1:c.1849A>C	ENSP00000506978.1:p.Ser617Arg
ENST00000506362.2:c.1600A>C	ENSP00000424103.2:p.Ser534Arg
ENST00000673642.1:c.1508A>C	ENSP00000501242.1:n.1508A>C
ENST00000673991.1:c.1885A>C	ENSP00000501033.1:p.Ser629Arg
ENST00000226760.5:c.1849A>C MANE Select	ENSP00000226760.1:p.Ser617Arg
ENST00000503569.5:c.1849A>C	ENSP00000423337.1:p.Ser617Arg
ENST00000507765.1:n.2034A>C
NM_001145853.1:c.1849A>C	NP_001139325.1:p.Ser617Arg
NM_006005.3:c.1849A>C MANE Select	NP_005996.2:p.Ser617Arg
XM_017008586.1:c.1858A>C	XP_016864075.1:p.Ser620Arg