Canonical Allele Identifier: CA2669826248
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6292014-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6292014C>A , CM000666.2:g.6292014C>A GRCh38
NC_000004.11:g.6293741C>A , CM000666.1:g.6293741C>A GRCh37
NC_000004.10:g.6344642C>A NCBI36
NG_011700.1:g.27165C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.712+17C>A ENSP00000507852.1:n.712+17C>A
ENST00000683395.1:c.689+17C>A
ENST00000684087.1:c.712+17C>A ENSP00000506978.1:n.712+17C>A
ENST00000506362.2:c.463+17C>A ENSP00000424103.2:n.463+17C>A
ENST00000673642.1:c.511+17C>A ENSP00000501242.1:n.511+17C>A
ENST00000673991.1:c.712+17C>A ENSP00000501033.1:n.712+17C>A
ENST00000226760.5:c.712+17C>A MANE Select ENSP00000226760.1:n.712+17C>A
ENST00000503569.5:c.712+17C>A ENSP00000423337.1:n.712+17C>A
ENST00000506362.1:c.309+17C>A
ENST00000507765.1:n.897+17C>A
NM_001145853.1:c.712+17C>A NP_001139325.1:n.712+17C>A
NM_006005.3:c.712+17C>A MANE Select NP_005996.2:n.712+17C>A
XM_017008586.1:c.721+17C>A XP_016864075.1:n.721+17C>A