Canonical Allele Identifier: CA2669826062
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6291485-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291485C>A , CM000666.2:g.6291485C>A GRCh38
NC_000004.11:g.6293212C>A , CM000666.1:g.6293212C>A GRCh37
NC_000004.10:g.6344113C>A NCBI36
NG_011700.1:g.26636C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.631+118C>A ENSP00000507852.1:n.631+118C>A
ENST00000683395.1:c.608+131C>A
ENST00000684087.1:c.631+118C>A ENSP00000506978.1:n.631+118C>A
ENST00000684700.1:c.*44C>A ENSP00000507806.1:n.*44C>A
ENST00000506362.2:c.382+118C>A ENSP00000424103.2:n.382+118C>A
ENST00000673642.1:c.430+118C>A ENSP00000501242.1:n.430+118C>A
ENST00000673991.1:c.631+118C>A ENSP00000501033.1:n.631+118C>A
ENST00000226760.5:c.631+118C>A MANE Select ENSP00000226760.1:n.631+118C>A
ENST00000503569.5:c.631+118C>A ENSP00000423337.1:n.631+118C>A
ENST00000506362.1:c.228+118C>A
ENST00000507765.1:n.816+118C>A
NM_001145853.1:c.631+118C>A NP_001139325.1:n.631+118C>A
NM_006005.3:c.631+118C>A MANE Select NP_005996.2:n.631+118C>A
XM_017008586.1:c.640+118C>A XP_016864075.1:n.640+118C>A
Search 100 bp 5'
Search 100 bp 3'