Canonical Allele Identifier: CA438368428

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301073-C-T
• MyVariant Identifiers: chr4:g.6302800C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301073C>T , CM000666.2:g.6301073C>T	GRCh38
NC_000004.11:g.6302800C>T , CM000666.1:g.6302800C>T	GRCh37
NC_000004.10:g.6353701C>T	NCBI36
NG_011700.1:g.36224C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1314C>T	ENSP00000507852.1:p.Cys438=
ENST00000683395.1:c.1255C>T
ENST00000684087.1:c.1278C>T	ENSP00000506978.1:p.Cys426=
ENST00000506362.2:c.1029C>T	ENSP00000424103.2:p.Cys343=
ENST00000673642.1:c.937C>T	ENSP00000501242.1:p.His313Tyr
ENST00000673991.1:c.1314C>T	ENSP00000501033.1:p.Cys438=
ENST00000226760.5:c.1278C>T MANE Select	ENSP00000226760.1:p.Cys426=
ENST00000503569.5:c.1278C>T	ENSP00000423337.1:p.Cys426=
ENST00000507765.1:n.1463C>T
NM_001145853.1:c.1278C>T	NP_001139325.1:p.Cys426=
NM_006005.3:c.1278C>T MANE Select	NP_005996.2:p.Cys426=
XM_017008586.1:c.1287C>T	XP_016864075.1:p.Cys429=