Canonical Allele Identifier: CA356172365
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291998G>C , CM000666.2:g.6291998G>C GRCh38
NC_000004.11:g.6293725G>C , CM000666.1:g.6293725G>C GRCh37
NC_000004.10:g.6344626G>C NCBI36
NG_011700.1:g.27149G>C

Transcript Alleles

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