Canonical Allele Identifier: CA1058890852
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1578607955
gnomAD v3: 4-6300549-G-C
gnomAD v4: 4-6300549-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300549G>C , CM000666.2:g.6300549G>C GRCh38
NC_000004.11:g.6302276G>C , CM000666.1:g.6302276G>C GRCh37
NC_000004.10:g.6353177G>C NCBI36
NG_011700.1:g.35700G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.898-108G>C ENSP00000507852.1:n.898-108G>C
ENST00000683395.1:c.839-108G>C
ENST00000684087.1:c.862-108G>C ENSP00000506978.1:n.862-108G>C
ENST00000506362.2:c.613-108G>C ENSP00000424103.2:n.613-108G>C
ENST00000673642.1:c.661-248G>C ENSP00000501242.1:n.661-248G>C
ENST00000673991.1:c.898-108G>C ENSP00000501033.1:n.898-108G>C
ENST00000226760.5:c.862-108G>C MANE Select ENSP00000226760.1:n.862-108G>C
ENST00000503569.5:c.862-108G>C ENSP00000423337.1:n.862-108G>C
ENST00000506362.1:c.495-108G>C
ENST00000507765.1:n.1047-108G>C
ENST00000513395.1:n.420-108G>C
NM_001145853.1:c.862-108G>C NP_001139325.1:n.862-108G>C
NM_006005.3:c.862-108G>C MANE Select NP_005996.2:n.862-108G>C
XM_017008586.1:c.871-108G>C XP_016864075.1:n.871-108G>C