Canonical Allele Identifier: CA356175770

Gene: WFS1

Linked Data

• dbSNP Id: rs28937892
• gnomAD v2: 4-6303033-C-A
• MyVariant Identifiers: chr4:g.6303033C>A (hg19) ; chr4:g.6301306C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301306C>A , CM000666.2:g.6301306C>A	GRCh38
NC_000004.11:g.6303033C>A , CM000666.1:g.6303033C>A	GRCh37
NC_000004.10:g.6353934C>A	NCBI36
NG_011700.1:g.36457C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1547C>A	ENSP00000507852.1:p.Pro516Gln
ENST00000683395.1:c.1488C>A
ENST00000684087.1:c.1511C>A	ENSP00000506978.1:p.Pro504Gln
ENST00000506362.2:c.1262C>A	ENSP00000424103.2:p.Pro421Gln
ENST00000673642.1:c.1170C>A	ENSP00000501242.1:p.Pro390=
ENST00000673991.1:c.1547C>A	ENSP00000501033.1:p.Pro516Gln
ENST00000226760.5:c.1511C>A MANE Select	ENSP00000226760.1:p.Pro504Gln
ENST00000503569.5:c.1511C>A	ENSP00000423337.1:p.Pro504Gln
ENST00000507765.1:n.1696C>A
NM_001145853.1:c.1511C>A	NP_001139325.1:p.Pro504Gln
NM_006005.3:c.1511C>A MANE Select	NP_005996.2:p.Pro504Gln
XM_017008586.1:c.1520C>A	XP_016864075.1:p.Pro507Gln