Canonical Allele Identifier: CA797128047
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1373786169

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291559C>G , CM000666.2:g.6291559C>G GRCh38
NC_000004.11:g.6293286C>G , CM000666.1:g.6293286C>G GRCh37
NC_000004.10:g.6344187C>G NCBI36
NG_011700.1:g.26710C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.631+192C>G ENSP00000507852.1:n.631+192C>G
ENST00000683395.1:c.608+205C>G
ENST00000684087.1:c.631+192C>G ENSP00000506978.1:n.631+192C>G
ENST00000684700.1:c.*118C>G ENSP00000507806.1:n.*118C>G
ENST00000506362.2:c.382+192C>G ENSP00000424103.2:n.382+192C>G
ENST00000673642.1:c.430+192C>G ENSP00000501242.1:n.430+192C>G
ENST00000673991.1:c.631+192C>G ENSP00000501033.1:n.631+192C>G
ENST00000226760.5:c.631+192C>G MANE Select ENSP00000226760.1:n.631+192C>G
ENST00000503569.5:c.631+192C>G ENSP00000423337.1:n.631+192C>G
ENST00000506362.1:c.228+192C>G
ENST00000507765.1:n.816+192C>G
NM_001145853.1:c.631+192C>G NP_001139325.1:n.631+192C>G
NM_006005.3:c.631+192C>G MANE Select NP_005996.2:n.631+192C>G
XM_017008586.1:c.640+192C>G XP_016864075.1:n.640+192C>G