Canonical Allele Identifier: CA356172044
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291300C>G , CM000666.2:g.6291300C>G GRCh38
NC_000004.11:g.6293027C>G , CM000666.1:g.6293027C>G GRCh37
NC_000004.10:g.6343928C>G NCBI36
NG_011700.1:g.26451C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.564C>G ENSP00000507852.1:p.Asn188Lys
ENST00000683395.1:c.554C>G
ENST00000684087.1:c.564C>G ENSP00000506978.1:p.Asn188Lys
ENST00000684700.1:c.564C>G ENSP00000507806.1:p.Asn188Lys
ENST00000506362.2:c.315C>G ENSP00000424103.2:p.Asn105Lys
ENST00000673642.1:c.363C>G ENSP00000501242.1:p.Asn121Lys
ENST00000673991.1:c.564C>G ENSP00000501033.1:p.Asn188Lys
ENST00000674051.1:c.438C>G ENSP00000501083.1:p.Asn146Lys
ENST00000226760.5:c.564C>G MANE Select ENSP00000226760.1:p.Asn188Lys
ENST00000503569.5:c.564C>G ENSP00000423337.1:p.Asn188Lys
ENST00000506362.1:c.161C>G
ENST00000507765.1:n.749C>G
NM_001145853.1:c.564C>G NP_001139325.1:p.Asn188Lys
NM_006005.3:c.564C>G MANE Select NP_005996.2:p.Asn188Lys
XM_017008586.1:c.573C>G XP_016864075.1:p.Asn191Lys