Canonical Allele Identifier: CA11634619
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 684342
ClinVar RCV Id: RCV000844555
dbSNP Id: rs10012946

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291623T>C , CM000666.2:g.6291623T>C GRCh38
NC_000004.11:g.6293350T>C , CM000666.1:g.6293350T>C GRCh37
NC_000004.10:g.6344251T>C NCBI36
NG_011700.1:g.26774T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000506362.2:c.382+256T>C ENSP00000424103.2:p.=
ENST00000673642.1:n.430+256T>C ENSP00000501242.1:p.=
ENST00000673991.1:c.631+256T>C ENSP00000501033.1:p.=
ENST00000226760.5:c.631+256T>C MANE Select ENSP00000226760.1:p.=
ENST00000503569.5:c.631+256T>C ENSP00000423337.1:p.=
ENST00000506362.1:n.228+256T>C
ENST00000507765.1:n.816+256T>C
NM_001145853.1:c.631+256T>C NP_001139325.1:p.=
NM_006005.3:c.631+256T>C MANE Select NP_005996.2:p.=
XM_017008586.1:c.640+256T>C XP_016864075.1:p.=