Canonical Allele Identifier: CA356173804

Gene: WFS1

Linked Data

• dbSNP Id: rs1417724907
• gnomAD v2: 4-6302402-C-T
• gnomAD v4: 4-6300675-C-T
• MyVariant Identifiers: chr4:g.6302402C>T (hg19) ; chr4:g.6300675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300675C>T , CM000666.2:g.6300675C>T	GRCh38
NC_000004.11:g.6302402C>T , CM000666.1:g.6302402C>T	GRCh37
NC_000004.10:g.6353303C>T	NCBI36
NG_011700.1:g.35826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.916C>T	ENSP00000507852.1:p.His306Tyr
ENST00000683395.1:c.857C>T
ENST00000684087.1:c.880C>T	ENSP00000506978.1:p.His294Tyr
ENST00000506362.2:c.631C>T	ENSP00000424103.2:p.His211Tyr
ENST00000673642.1:c.661-122C>T	ENSP00000501242.1:n.661-122C>T
ENST00000673991.1:c.916C>T	ENSP00000501033.1:p.His306Tyr
ENST00000226760.5:c.880C>T MANE Select	ENSP00000226760.1:p.His294Tyr
ENST00000503569.5:c.880C>T	ENSP00000423337.1:p.His294Tyr
ENST00000506362.1:c.513C>T
ENST00000507765.1:n.1065C>T
ENST00000513395.1:n.438C>T
NM_001145853.1:c.880C>T	NP_001139325.1:p.His294Tyr
NM_006005.3:c.880C>T MANE Select	NP_005996.2:p.His294Tyr
XM_017008586.1:c.889C>T	XP_016864075.1:p.His297Tyr