Canonical Allele Identifier: CA356176276

Gene: WFS1

Linked Data

• dbSNP Id: rs1178491578
• gnomAD v2: 4-6303137-A-G
• gnomAD v4: 4-6301410-A-G
• MyVariant Identifiers: chr4:g.6303137A>G (hg19) ; chr4:g.6301410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301410A>G , CM000666.2:g.6301410A>G	GRCh38
NC_000004.11:g.6303137A>G , CM000666.1:g.6303137A>G	GRCh37
NC_000004.10:g.6354038A>G	NCBI36
NG_011700.1:g.36561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1651A>G	ENSP00000507852.1:p.Met551Val
ENST00000683395.1:c.1592A>G
ENST00000684087.1:c.1615A>G	ENSP00000506978.1:p.Met539Val
ENST00000506362.2:c.1366A>G	ENSP00000424103.2:p.Met456Val
ENST00000673642.1:c.1274A>G	ENSP00000501242.1:p.His425Arg
ENST00000673991.1:c.1651A>G	ENSP00000501033.1:p.Met551Val
ENST00000226760.5:c.1615A>G MANE Select	ENSP00000226760.1:p.Met539Val
ENST00000503569.5:c.1615A>G	ENSP00000423337.1:p.Met539Val
ENST00000507765.1:n.1800A>G
NM_001145853.1:c.1615A>G	NP_001139325.1:p.Met539Val
NM_006005.3:c.1615A>G MANE Select	NP_005996.2:p.Met539Val
XM_017008586.1:c.1624A>G	XP_016864075.1:p.Met542Val