Canonical Allele Identifier: CA2669843174
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6300610-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300610T>G , CM000666.2:g.6300610T>G GRCh38
NC_000004.11:g.6302337T>G , CM000666.1:g.6302337T>G GRCh37
NC_000004.10:g.6353238T>G NCBI36
NG_011700.1:g.35761T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.898-47T>G ENSP00000507852.1:n.898-47T>G
ENST00000683395.1:c.839-47T>G
ENST00000684087.1:c.862-47T>G ENSP00000506978.1:n.862-47T>G
ENST00000506362.2:c.613-47T>G ENSP00000424103.2:n.613-47T>G
ENST00000673642.1:c.661-187T>G ENSP00000501242.1:n.661-187T>G
ENST00000673991.1:c.898-47T>G ENSP00000501033.1:n.898-47T>G
ENST00000226760.5:c.862-47T>G MANE Select ENSP00000226760.1:n.862-47T>G
ENST00000503569.5:c.862-47T>G ENSP00000423337.1:n.862-47T>G
ENST00000506362.1:c.495-47T>G
ENST00000507765.1:n.1047-47T>G
ENST00000513395.1:n.420-47T>G
NM_001145853.1:c.862-47T>G NP_001139325.1:n.862-47T>G
NM_006005.3:c.862-47T>G MANE Select NP_005996.2:n.862-47T>G
XM_017008586.1:c.871-47T>G XP_016864075.1:n.871-47T>G