Canonical Allele Identifier: CA2669826245
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6292006-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6292006A>G , CM000666.2:g.6292006A>G GRCh38
NC_000004.11:g.6293733A>G , CM000666.1:g.6293733A>G GRCh37
NC_000004.10:g.6344634A>G NCBI36
NG_011700.1:g.27157A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.712+9A>G ENSP00000507852.1:n.712+9A>G
ENST00000683395.1:c.689+9A>G
ENST00000684087.1:c.712+9A>G ENSP00000506978.1:n.712+9A>G
ENST00000506362.2:c.463+9A>G ENSP00000424103.2:n.463+9A>G
ENST00000673642.1:c.511+9A>G ENSP00000501242.1:n.511+9A>G
ENST00000673991.1:c.712+9A>G ENSP00000501033.1:n.712+9A>G
ENST00000226760.5:c.712+9A>G MANE Select ENSP00000226760.1:n.712+9A>G
ENST00000503569.5:c.712+9A>G ENSP00000423337.1:n.712+9A>G
ENST00000506362.1:c.309+9A>G
ENST00000507765.1:n.897+9A>G
NM_001145853.1:c.712+9A>G NP_001139325.1:n.712+9A>G
NM_006005.3:c.712+9A>G MANE Select NP_005996.2:n.712+9A>G
XM_017008586.1:c.721+9A>G XP_016864075.1:n.721+9A>G