Canonical Allele Identifier: CA356174149

Gene: WFS1

Linked Data

• dbSNP Id: rs1161591311
• gnomAD v2: 4-6302571-T-G
• gnomAD v3: 4-6300844-T-G
• gnomAD v4: 4-6300844-T-G
• MyVariant Identifiers: chr4:g.6302571T>G (hg19) ; chr4:g.6300844T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300844T>G , CM000666.2:g.6300844T>G	GRCh38
NC_000004.11:g.6302571T>G , CM000666.1:g.6302571T>G	GRCh37
NC_000004.10:g.6353472T>G	NCBI36
NG_011700.1:g.35995T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1085T>G	ENSP00000507852.1:p.Phe362Cys
ENST00000683395.1:c.1026T>G
ENST00000684087.1:c.1049T>G	ENSP00000506978.1:p.Phe350Cys
ENST00000506362.2:c.800T>G	ENSP00000424103.2:p.Phe267Cys
ENST00000673642.1:c.708T>G	ENSP00000501242.1:p.Leu236=
ENST00000673991.1:c.1085T>G	ENSP00000501033.1:p.Phe362Cys
ENST00000226760.5:c.1049T>G MANE Select	ENSP00000226760.1:p.Phe350Cys
ENST00000503569.5:c.1049T>G	ENSP00000423337.1:p.Phe350Cys
ENST00000506362.1:c.682T>G
ENST00000507765.1:n.1234T>G
NM_001145853.1:c.1049T>G	NP_001139325.1:p.Phe350Cys
NM_006005.3:c.1049T>G MANE Select	NP_005996.2:p.Phe350Cys
XM_017008586.1:c.1058T>G	XP_016864075.1:p.Phe353Cys