Canonical Allele Identifier: CA356177686
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301887G>C , CM000666.2:g.6301887G>C GRCh38
NC_000004.11:g.6303614G>C , CM000666.1:g.6303614G>C GRCh37
NC_000004.10:g.6354515G>C NCBI36
NG_011700.1:g.37038G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2128G>C ENSP00000507852.1:p.Val710Leu
ENST00000683395.1:c.2069G>C
ENST00000684087.1:c.2092G>C ENSP00000506978.1:p.Val698Leu
ENST00000506362.2:c.1843G>C ENSP00000424103.2:p.Val615Leu
ENST00000673642.1:c.1751G>C ENSP00000501242.1:n.1751G>C
ENST00000673991.1:c.2128G>C ENSP00000501033.1:p.Val710Leu
ENST00000226760.5:c.2092G>C MANE Select ENSP00000226760.1:p.Val698Leu
ENST00000503569.5:c.2092G>C ENSP00000423337.1:p.Val698Leu
ENST00000507765.1:n.2277G>C
NM_001145853.1:c.2092G>C NP_001139325.1:p.Val698Leu
NM_006005.3:c.2092G>C MANE Select NP_005996.2:p.Val698Leu
XM_017008586.1:c.2101G>C XP_016864075.1:p.Val701Leu