Canonical Allele Identifier: CA438367864

Gene: WFS1

Linked Data

• dbSNP Id: rs755063164
• MyVariant Identifiers: chr4:g.6302530C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300803C>A , CM000666.2:g.6300803C>A	GRCh38
NC_000004.11:g.6302530C>A , CM000666.1:g.6302530C>A	GRCh37
NC_000004.10:g.6353431C>A	NCBI36
NG_011700.1:g.35954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1044C>A	ENSP00000507852.1:p.Leu348=
ENST00000683395.1:c.985C>A
ENST00000684087.1:c.1008C>A	ENSP00000506978.1:p.Leu336=
ENST00000506362.2:c.759C>A	ENSP00000424103.2:p.Leu253=
ENST00000673642.1:c.667C>A	ENSP00000501242.1:p.His223Asn
ENST00000673991.1:c.1044C>A	ENSP00000501033.1:p.Leu348=
ENST00000226760.5:c.1008C>A MANE Select	ENSP00000226760.1:p.Leu336=
ENST00000503569.5:c.1008C>A	ENSP00000423337.1:p.Leu336=
ENST00000506362.1:c.641C>A
ENST00000507765.1:n.1193C>A
ENST00000513395.1:n.566C>A
NM_001145853.1:c.1008C>A	NP_001139325.1:p.Leu336=
NM_006005.3:c.1008C>A MANE Select	NP_005996.2:p.Leu336=
XM_017008586.1:c.1017C>A	XP_016864075.1:p.Leu339=