Canonical Allele Identifier: CA438368846
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6303793T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302066T>C , CM000666.2:g.6302066T>C GRCh38
NC_000004.11:g.6303793T>C , CM000666.1:g.6303793T>C GRCh37
NC_000004.10:g.6354694T>C NCBI36
NG_011700.1:g.37217T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2307T>C ENSP00000507852.1:p.Leu769=
ENST00000683395.1:c.2248T>C
ENST00000684087.1:c.2271T>C ENSP00000506978.1:p.Leu757=
ENST00000506362.2:c.2022T>C ENSP00000424103.2:p.Leu674=
ENST00000673642.1:c.1930T>C ENSP00000501242.1:n.1930T>C
ENST00000673991.1:c.2307T>C ENSP00000501033.1:p.Leu769=
ENST00000226760.5:c.2271T>C MANE Select ENSP00000226760.1:p.Leu757=
ENST00000503569.5:c.2271T>C ENSP00000423337.1:p.Leu757=
ENST00000507765.1:n.2456T>C
NM_001145853.1:c.2271T>C NP_001139325.1:p.Leu757=
NM_006005.3:c.2271T>C MANE Select NP_005996.2:p.Leu757=
XM_017008586.1:c.2280T>C XP_016864075.1:p.Leu760=