Canonical Allele Identifier: CA438368303

Gene: WFS1

Linked Data

• gnomAD v4: 4-6302213-C-T
• MyVariant Identifiers: chr4:g.6303940C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302213C>T , CM000666.2:g.6302213C>T	GRCh38
NC_000004.11:g.6303940C>T , CM000666.1:g.6303940C>T	GRCh37
NC_000004.10:g.6354841C>T	NCBI36
NG_011700.1:g.37364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2454C>T	ENSP00000507852.1:p.Ala818=
ENST00000683395.1:c.2395C>T
ENST00000684087.1:c.2418C>T	ENSP00000506978.1:p.Ala806=
ENST00000506362.2:c.2169C>T	ENSP00000424103.2:p.Ala723=
ENST00000673991.1:c.2454C>T	ENSP00000501033.1:p.Ala818=
ENST00000226760.5:c.2418C>T MANE Select	ENSP00000226760.1:p.Ala806=
ENST00000503569.5:c.2418C>T	ENSP00000423337.1:p.Ala806=
ENST00000507765.1:n.2603C>T
NM_001145853.1:c.2418C>T	NP_001139325.1:p.Ala806=
NM_006005.3:c.2418C>T MANE Select	NP_005996.2:p.Ala806=
XM_017008586.1:c.2427C>T	XP_016864075.1:p.Ala809=