Canonical Allele Identifier: CA356176531
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301484C>G , CM000666.2:g.6301484C>G GRCh38
NC_000004.11:g.6303211C>G , CM000666.1:g.6303211C>G GRCh37
NC_000004.10:g.6354112C>G NCBI36
NG_011700.1:g.36635C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1725C>G ENSP00000507852.1:p.Tyr575Ter
ENST00000683395.1:c.1666C>G
ENST00000684087.1:c.1689C>G ENSP00000506978.1:p.Tyr563Ter
ENST00000506362.2:c.1440C>G ENSP00000424103.2:p.Tyr480Ter
ENST00000673642.1:c.1348C>G ENSP00000501242.1:n.1348C>G
ENST00000673991.1:c.1725C>G ENSP00000501033.1:p.Tyr575Ter
ENST00000226760.5:c.1689C>G MANE Select ENSP00000226760.1:p.Tyr563Ter
ENST00000503569.5:c.1689C>G ENSP00000423337.1:p.Tyr563Ter
ENST00000507765.1:n.1874C>G
NM_001145853.1:c.1689C>G NP_001139325.1:p.Tyr563Ter
NM_006005.3:c.1689C>G MANE Select NP_005996.2:p.Tyr563Ter
XM_017008586.1:c.1698C>G XP_016864075.1:p.Tyr566Ter