Canonical Allele Identifier: CA034469
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2415646
ClinVar RCV Id: RCV003104858
dbSNP Id: rs773966802
ExAC: 11:2466349 G / A
gnomAD v2: 11-2466349-G-A
gnomAD v4: 11-2445119-G-A
MyVariant Identifiers: chr11:g.2466349G>A (hg19) chr11:g.2445119G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445119G>A , CM000673.2:g.2445119G>A GRCh38
NC_000011.9:g.2466349G>A , CM000673.1:g.2466349G>A GRCh37
NC_000011.8:g.2422925G>A NCBI36
NG_008935.1:g.5129G>A , LRG_287:g.5129G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-264G>A ENSP00000434560.2:n.24-264G>A
ENST00000646564.2:c.21G>A ENSP00000495806.2:p.Pro7=
ENST00000155840.12:c.21G>A MANE Select ENSP00000155840.2:p.Pro7=
ENST00000155840.9:c.21G>A ENSP00000155840.2:p.Pro7=
ENST00000496887.6:c.24-264G>A ENSP00000434560.1:n.24-264G>A
NM_000218.2:c.21G>A , LRG_287t1:c.21G>A NP_000209.2:p.Pro7=
NM_000218.3:c.21G>A MANE Select NP_000209.2:p.Pro7=
Search 100 bp 5'
Search 100 bp 3'