Canonical Allele Identifier: CA438211082
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6293709C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291982C>T , CM000666.2:g.6291982C>T GRCh38
NC_000004.11:g.6293709C>T , CM000666.1:g.6293709C>T GRCh37
NC_000004.10:g.6344610C>T NCBI36
NG_011700.1:g.27133C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.697C>T ENSP00000507852.1:p.Leu233=
ENST00000683395.1:c.674C>T
ENST00000684087.1:c.697C>T ENSP00000506978.1:p.Leu233=
ENST00000506362.2:c.448C>T ENSP00000424103.2:p.Leu150=
ENST00000673642.1:c.496C>T ENSP00000501242.1:p.Leu166=
ENST00000673991.1:c.697C>T ENSP00000501033.1:p.Leu233=
ENST00000226760.5:c.697C>T MANE Select ENSP00000226760.1:p.Leu233=
ENST00000503569.5:c.697C>T ENSP00000423337.1:p.Leu233=
ENST00000506362.1:c.294C>T
ENST00000507765.1:n.882C>T
NM_001145853.1:c.697C>T NP_001139325.1:p.Leu233=
NM_006005.3:c.697C>T MANE Select NP_005996.2:p.Leu233=
XM_017008586.1:c.706C>T XP_016864075.1:p.Leu236=