Canonical Allele Identifier: CA356178774
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302303G>T , CM000666.2:g.6302303G>T GRCh38
NC_000004.11:g.6304030G>T , CM000666.1:g.6304030G>T GRCh37
NC_000004.10:g.6354931G>T NCBI36
NG_011700.1:g.37454G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2544G>T ENSP00000507852.1:p.Lys848Asn
ENST00000683395.1:c.2485G>T
ENST00000684087.1:c.2508G>T ENSP00000506978.1:p.Lys836Asn
ENST00000506362.2:c.2259G>T ENSP00000424103.2:p.Lys753Asn
ENST00000673991.1:c.2544G>T ENSP00000501033.1:p.Lys848Asn
ENST00000226760.5:c.2508G>T MANE Select ENSP00000226760.1:p.Lys836Asn
ENST00000503569.5:c.2508G>T ENSP00000423337.1:p.Lys836Asn
ENST00000507765.1:n.2693G>T
NM_001145853.1:c.2508G>T NP_001139325.1:p.Lys836Asn
NM_006005.3:c.2508G>T MANE Select NP_005996.2:p.Lys836Asn
XM_017008586.1:c.2517G>T XP_016864075.1:p.Lys839Asn