Canonical Allele Identifier: CA2530379371
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291666G>C , CM000666.2:g.6291666G>C GRCh38
NC_000004.11:g.6293393G>C , CM000666.1:g.6293393G>C GRCh37
NC_000004.10:g.6344294G>C NCBI36
NG_011700.1:g.26817G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.632-251G>C ENSP00000507852.1:n.632-251G>C
ENST00000683395.1:c.609-251G>C
ENST00000684087.1:c.632-251G>C ENSP00000506978.1:n.632-251G>C
ENST00000506362.2:c.383-251G>C ENSP00000424103.2:n.383-251G>C
ENST00000673642.1:c.431-251G>C ENSP00000501242.1:n.431-251G>C
ENST00000673991.1:c.632-251G>C ENSP00000501033.1:n.632-251G>C
ENST00000226760.5:c.632-251G>C MANE Select ENSP00000226760.1:n.632-251G>C
ENST00000503569.5:c.632-251G>C ENSP00000423337.1:n.632-251G>C
ENST00000506362.1:c.229-251G>C
ENST00000507765.1:n.817-251G>C
NM_001145853.1:c.632-251G>C NP_001139325.1:n.632-251G>C
NM_006005.3:c.632-251G>C MANE Select NP_005996.2:n.632-251G>C
XM_017008586.1:c.641-251G>C XP_016864075.1:n.641-251G>C