Canonical Allele Identifier: CA356172136
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6291345-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291345T>A , CM000666.2:g.6291345T>A GRCh38
NC_000004.11:g.6293072T>A , CM000666.1:g.6293072T>A GRCh37
NC_000004.10:g.6343973T>A NCBI36
NG_011700.1:g.26496T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.609T>A ENSP00000507852.1:p.Asn203Lys
ENST00000683395.1:c.599T>A
ENST00000684087.1:c.609T>A ENSP00000506978.1:p.Asn203Lys
ENST00000684700.1:c.609T>A ENSP00000507806.1:p.Asn203Lys
ENST00000506362.2:c.360T>A ENSP00000424103.2:p.Asn120Lys
ENST00000673642.1:c.408T>A ENSP00000501242.1:p.Asn136Lys
ENST00000673991.1:c.609T>A ENSP00000501033.1:p.Asn203Lys
ENST00000226760.5:c.609T>A MANE Select ENSP00000226760.1:p.Asn203Lys
ENST00000503569.5:c.609T>A ENSP00000423337.1:p.Asn203Lys
ENST00000506362.1:c.206T>A
ENST00000507765.1:n.794T>A
NM_001145853.1:c.609T>A NP_001139325.1:p.Asn203Lys
NM_006005.3:c.609T>A MANE Select NP_005996.2:p.Asn203Lys
XM_017008586.1:c.618T>A XP_016864075.1:p.Asn206Lys