Canonical Allele Identifier: CA438367896

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6302561C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300834C>T , CM000666.2:g.6300834C>T	GRCh38
NC_000004.11:g.6302561C>T , CM000666.1:g.6302561C>T	GRCh37
NC_000004.10:g.6353462C>T	NCBI36
NG_011700.1:g.35985C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1075C>T	ENSP00000507852.1:p.Leu359=
ENST00000683395.1:c.1016C>T
ENST00000684087.1:c.1039C>T	ENSP00000506978.1:p.Leu347=
ENST00000506362.2:c.790C>T	ENSP00000424103.2:p.Leu264=
ENST00000673642.1:c.698C>T	ENSP00000501242.1:p.Ala233Val
ENST00000673991.1:c.1075C>T	ENSP00000501033.1:p.Leu359=
ENST00000226760.5:c.1039C>T MANE Select	ENSP00000226760.1:p.Leu347=
ENST00000503569.5:c.1039C>T	ENSP00000423337.1:p.Leu347=
ENST00000506362.1:c.672C>T
ENST00000507765.1:n.1224C>T
NM_001145853.1:c.1039C>T	NP_001139325.1:p.Leu347=
NM_006005.3:c.1039C>T MANE Select	NP_005996.2:p.Leu347=
XM_017008586.1:c.1048C>T	XP_016864075.1:p.Leu350=