Canonical Allele Identifier: CA2669844023
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6303011-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6303011G>A , CM000666.2:g.6303011G>A GRCh38
NC_000004.11:g.6304738G>A , CM000666.1:g.6304738G>A GRCh37
NC_000004.10:g.6355639G>A NCBI36
NG_011700.1:g.38162G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*543G>A ENSP00000507852.1:n.*543G>A
ENST00000683395.1:c.3193G>A
ENST00000684087.1:c.*543G>A ENSP00000506978.1:n.*543G>A
ENST00000673991.1:c.*543G>A ENSP00000501033.1:n.*543G>A
ENST00000226760.5:c.*543G>A MANE Select ENSP00000226760.1:n.*543G>A
ENST00000507765.1:n.3401G>A
NM_001145853.1:c.*543G>A NP_001139325.1:n.*543G>A
NM_006005.3:c.*543G>A MANE Select NP_005996.2:n.*543G>A
XM_017008586.1:c.*543G>A XP_016864075.1:n.*543G>A
XR_001741566.2:n.1934C>T