Canonical Allele Identifier: CA438368365
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6303296C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301569C>T , CM000666.2:g.6301569C>T GRCh38
NC_000004.11:g.6303296C>T , CM000666.1:g.6303296C>T GRCh37
NC_000004.10:g.6354197C>T NCBI36
NG_011700.1:g.36720C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1810C>T ENSP00000507852.1:p.Leu604=
ENST00000683395.1:c.1751C>T
ENST00000684087.1:c.1774C>T ENSP00000506978.1:p.Leu592=
ENST00000506362.2:c.1525C>T ENSP00000424103.2:p.Leu509=
ENST00000673642.1:c.1433C>T ENSP00000501242.1:n.1433C>T
ENST00000673991.1:c.1810C>T ENSP00000501033.1:p.Leu604=
ENST00000226760.5:c.1774C>T MANE Select ENSP00000226760.1:p.Leu592=
ENST00000503569.5:c.1774C>T ENSP00000423337.1:p.Leu592=
ENST00000507765.1:n.1959C>T
NM_001145853.1:c.1774C>T NP_001139325.1:p.Leu592=
NM_006005.3:c.1774C>T MANE Select NP_005996.2:p.Leu592=
XM_017008586.1:c.1783C>T XP_016864075.1:p.Leu595=