Canonical Allele Identifier: CA438367903
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6302566C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300839C>A , CM000666.2:g.6300839C>A GRCh38
NC_000004.11:g.6302566C>A , CM000666.1:g.6302566C>A GRCh37
NC_000004.10:g.6353467C>A NCBI36
NG_011700.1:g.35990C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1080C>A ENSP00000507852.1:p.Val360=
ENST00000683395.1:c.1021C>A
ENST00000684087.1:c.1044C>A ENSP00000506978.1:p.Val348=
ENST00000506362.2:c.795C>A ENSP00000424103.2:p.Val265=
ENST00000673642.1:c.703C>A ENSP00000501242.1:p.His235Asn
ENST00000673991.1:c.1080C>A ENSP00000501033.1:p.Val360=
ENST00000226760.5:c.1044C>A MANE Select ENSP00000226760.1:p.Val348=
ENST00000503569.5:c.1044C>A ENSP00000423337.1:p.Val348=
ENST00000506362.1:c.677C>A
ENST00000507765.1:n.1229C>A
NM_001145853.1:c.1044C>A NP_001139325.1:p.Val348=
NM_006005.3:c.1044C>A MANE Select NP_005996.2:p.Val348=
XM_017008586.1:c.1053C>A XP_016864075.1:p.Val351=