Canonical Allele Identifier: CA027352
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1394880
ClinVar RCV Id: RCV001901030 RCV002324285
dbSNP Id: rs756571615
ExAC: 11:2608803 G / A
gnomAD v2: 11-2608803-G-A
gnomAD v3: 11-2587573-G-A
gnomAD v4: 11-2587573-G-A
COSMIC: COSM926059
MyVariant Identifiers: chr11:g.2608803G>A (hg19) chr11:g.2587573G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587573G>A , CM000673.2:g.2587573G>A GRCh38
NC_000011.9:g.2608803G>A , CM000673.1:g.2608803G>A GRCh37
NC_000011.8:g.2565379G>A NCBI36
NG_008935.1:g.147583G>A , LRG_287:g.147583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.775G>A ENSP00000434560.2:p.Ala259Thr
ENST00000646564.2:c.592G>A ENSP00000495806.2:p.Ala198Thr
ENST00000155840.12:c.1132G>A MANE Select ENSP00000155840.2:p.Ala378Thr
ENST00000335475.6:c.751G>A ENSP00000334497.5:p.Ala251Thr
ENST00000646564.1:c.238G>A ENSP00000495806.1:p.Ala80Thr
ENST00000155840.9:c.1132G>A ENSP00000155840.2:p.Ala378Thr
ENST00000335475.5:c.751G>A ENSP00000334497.5:p.Ala251Thr
NM_000218.2:c.1132G>A , LRG_287t1:c.1132G>A NP_000209.2:p.Ala378Thr
NM_181798.1:c.751G>A , LRG_287t2:c.751G>A NP_861463.1:p.Ala251Thr
NM_000218.3:c.1132G>A MANE Select NP_000209.2:p.Ala378Thr
Search 100 bp 5'
Search 100 bp 3'