Canonical Allele Identifier: CA438211475

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6302452A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300725A>T , CM000666.2:g.6300725A>T	GRCh38
NC_000004.11:g.6302452A>T , CM000666.1:g.6302452A>T	GRCh37
NC_000004.10:g.6353353A>T	NCBI36
NG_011700.1:g.35876A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.966A>T	ENSP00000507852.1:p.Ala322=
ENST00000683395.1:c.907A>T
ENST00000684087.1:c.930A>T	ENSP00000506978.1:p.Ala310=
ENST00000506362.2:c.681A>T	ENSP00000424103.2:p.Ala227=
ENST00000673642.1:c.661-72A>T	ENSP00000501242.1:n.661-72A>T
ENST00000673991.1:c.966A>T	ENSP00000501033.1:p.Ala322=
ENST00000226760.5:c.930A>T MANE Select	ENSP00000226760.1:p.Ala310=
ENST00000503569.5:c.930A>T	ENSP00000423337.1:p.Ala310=
ENST00000506362.1:c.563A>T
ENST00000507765.1:n.1115A>T
ENST00000513395.1:n.488A>T
NM_001145853.1:c.930A>T	NP_001139325.1:p.Ala310=
NM_006005.3:c.930A>T MANE Select	NP_005996.2:p.Ala310=
XM_017008586.1:c.939A>T	XP_016864075.1:p.Ala313=