Canonical Allele Identifier: CA797205662
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1186577560
gnomAD v3: 4-6300519-T-A
gnomAD v4: 4-6300519-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300519T>A , CM000666.2:g.6300519T>A GRCh38
NC_000004.11:g.6302246T>A , CM000666.1:g.6302246T>A GRCh37
NC_000004.10:g.6353147T>A NCBI36
NG_011700.1:g.35670T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.898-138T>A ENSP00000507852.1:n.898-138T>A
ENST00000683395.1:c.839-138T>A
ENST00000684087.1:c.862-138T>A ENSP00000506978.1:n.862-138T>A
ENST00000506362.2:c.613-138T>A ENSP00000424103.2:n.613-138T>A
ENST00000673642.1:c.661-278T>A ENSP00000501242.1:n.661-278T>A
ENST00000673991.1:c.898-138T>A ENSP00000501033.1:n.898-138T>A
ENST00000226760.5:c.862-138T>A MANE Select ENSP00000226760.1:n.862-138T>A
ENST00000503569.5:c.862-138T>A ENSP00000423337.1:n.862-138T>A
ENST00000506362.1:c.495-138T>A
ENST00000507765.1:n.1047-138T>A
ENST00000513395.1:n.420-138T>A
NM_001145853.1:c.862-138T>A NP_001139325.1:n.862-138T>A
NM_006005.3:c.862-138T>A MANE Select NP_005996.2:n.862-138T>A
XM_017008586.1:c.871-138T>A XP_016864075.1:n.871-138T>A