Canonical Allele Identifier: CA356174053
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300799A>G , CM000666.2:g.6300799A>G GRCh38
NC_000004.11:g.6302526A>G , CM000666.1:g.6302526A>G GRCh37
NC_000004.10:g.6353427A>G NCBI36
NG_011700.1:g.35950A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1040A>G ENSP00000507852.1:p.Asn347Ser
ENST00000683395.1:c.981A>G
ENST00000684087.1:c.1004A>G ENSP00000506978.1:p.Asn335Ser
ENST00000506362.2:c.755A>G ENSP00000424103.2:p.Asn252Ser
ENST00000673642.1:c.663A>G ENSP00000501242.1:p.Gln221=
ENST00000673991.1:c.1040A>G ENSP00000501033.1:p.Asn347Ser
ENST00000226760.5:c.1004A>G MANE Select ENSP00000226760.1:p.Asn335Ser
ENST00000503569.5:c.1004A>G ENSP00000423337.1:p.Asn335Ser
ENST00000506362.1:c.637A>G
ENST00000507765.1:n.1189A>G
ENST00000513395.1:n.562A>G
NM_001145853.1:c.1004A>G NP_001139325.1:p.Asn335Ser
NM_006005.3:c.1004A>G MANE Select NP_005996.2:p.Asn335Ser
XM_017008586.1:c.1013A>G XP_016864075.1:p.Asn338Ser