Canonical Allele Identifier: CA008122
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3118
dbSNP Id: rs120074179
gnomAD v4: 11-2572089-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572089G>A , CM000673.2:g.2572089G>A GRCh38
NC_000011.9:g.2593319G>A , CM000673.1:g.2593319G>A GRCh37
NC_000011.8:g.2549895G>A NCBI36
NG_008935.1:g.132099G>A , LRG_287:g.132099G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.499G>A ENSP00000434560.2:p.Val167Met
ENST00000646564.2:c.478-11346G>A ENSP00000495806.2:n.478-11346G>A
ENST00000155840.12:c.760G>A MANE Select ENSP00000155840.2:p.Val254Met
ENST00000335475.6:c.379G>A ENSP00000334497.5:p.Val127Met
ENST00000646564.1:c.124-11346G>A ENSP00000495806.1:n.124-11346G>A
ENST00000155840.9:c.760G>A ENSP00000155840.2:p.Val254Met
ENST00000335475.5:c.379G>A ENSP00000334497.5:p.Val127Met
ENST00000496887.6:c.499G>A ENSP00000434560.1:p.Val167Met
NM_000218.2:c.760G>A , LRG_287t1:c.760G>A NP_000209.2:p.Val254Met
NM_181798.1:c.379G>A , LRG_287t2:c.379G>A NP_861463.1:p.Val127Met
NM_000218.3:c.760G>A MANE Select NP_000209.2:p.Val254Met