Canonical Allele Identifier: CA005326
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52961
dbSNP Id: rs199472767
gnomAD v2: 11-2606530-T-A
gnomAD v4: 11-2585300-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585300T>A , CM000673.2:g.2585300T>A GRCh38
NC_000011.9:g.2606530T>A , CM000673.1:g.2606530T>A GRCh37
NC_000011.8:g.2563106T>A NCBI36
NG_008935.1:g.145310T>A , LRG_287:g.145310T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.771+1755T>A ENSP00000434560.2:n.771+1755T>A
ENST00000646564.2:c.588+1755T>A ENSP00000495806.2:n.588+1755T>A
ENST00000155840.12:c.1121T>A MANE Select ENSP00000155840.2:p.Leu374His
ENST00000335475.6:c.740T>A ENSP00000334497.5:p.Leu247His
ENST00000646564.1:c.234+1755T>A ENSP00000495806.1:n.234+1755T>A
ENST00000155840.9:c.1121T>A ENSP00000155840.2:p.Leu374His
ENST00000335475.5:c.740T>A ENSP00000334497.5:p.Leu247His
NM_000218.2:c.1121T>A , LRG_287t1:c.1121T>A NP_000209.2:p.Leu374His
NM_181798.1:c.740T>A , LRG_287t2:c.740T>A NP_861463.1:p.Leu247His
NM_000218.3:c.1121T>A MANE Select NP_000209.2:p.Leu374His