Canonical Allele Identifier: CA356175765

Gene: WFS1

Linked Data

• dbSNP Id: rs1064797305
• gnomAD v4: 4-6301305-C-G
• MyVariant Identifiers: chr4:g.6303032C>G (hg19) ; chr4:g.6301305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301305C>G , CM000666.2:g.6301305C>G	GRCh38
NC_000004.11:g.6303032C>G , CM000666.1:g.6303032C>G	GRCh37
NC_000004.10:g.6353933C>G	NCBI36
NG_011700.1:g.36456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1546C>G	ENSP00000507852.1:p.Pro516Ala
ENST00000683395.1:c.1487C>G
ENST00000684087.1:c.1510C>G	ENSP00000506978.1:p.Pro504Ala
ENST00000506362.2:c.1261C>G	ENSP00000424103.2:p.Pro421Ala
ENST00000673642.1:c.1169C>G	ENSP00000501242.1:p.Pro390Arg
ENST00000673991.1:c.1546C>G	ENSP00000501033.1:p.Pro516Ala
ENST00000226760.5:c.1510C>G MANE Select	ENSP00000226760.1:p.Pro504Ala
ENST00000503569.5:c.1510C>G	ENSP00000423337.1:p.Pro504Ala
ENST00000507765.1:n.1695C>G
NM_001145853.1:c.1510C>G	NP_001139325.1:p.Pro504Ala
NM_006005.3:c.1510C>G MANE Select	NP_005996.2:p.Pro504Ala
XM_017008586.1:c.1519C>G	XP_016864075.1:p.Pro507Ala