Canonical Allele Identifier: CA1435769037
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1730481035

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6292052G>T , CM000666.2:g.6292052G>T GRCh38
NC_000004.11:g.6293779G>T , CM000666.1:g.6293779G>T GRCh37
NC_000004.10:g.6344680G>T NCBI36
NG_011700.1:g.27203G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.712+55G>T ENSP00000507852.1:n.712+55G>T
ENST00000683395.1:c.689+55G>T
ENST00000684087.1:c.712+55G>T ENSP00000506978.1:n.712+55G>T
ENST00000506362.2:c.463+55G>T ENSP00000424103.2:n.463+55G>T
ENST00000673642.1:c.511+55G>T ENSP00000501242.1:n.511+55G>T
ENST00000673991.1:c.712+55G>T ENSP00000501033.1:n.712+55G>T
ENST00000226760.5:c.712+55G>T MANE Select ENSP00000226760.1:n.712+55G>T
ENST00000503569.5:c.712+55G>T ENSP00000423337.1:n.712+55G>T
ENST00000506362.1:c.309+55G>T
ENST00000507765.1:n.897+55G>T
NM_001145853.1:c.712+55G>T NP_001139325.1:n.712+55G>T
NM_006005.3:c.712+55G>T MANE Select NP_005996.2:n.712+55G>T
XM_017008586.1:c.721+55G>T XP_016864075.1:n.721+55G>T