Canonical Allele Identifier: CA007353

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53061
• ClinVar RCV Id: RCV000057692 ; RCV000148553 ; RCV000182081 ; RCV000244422 ; RCV001028063 ; RCV001258060 ; RCV003591642 ; RCV003989306
• dbSNP Id: rs120074177
• ExAC: 11:2591912 G / A
• gnomAD v2: 11-2591912-G-A
• gnomAD v4: 11-2570682-G-A
• MyVariant Identifiers: chr11:g.2591912G>A (hg19) ; chr11:g.2570682G>A (hg38)
• PubMed: PMID:9024139 ; PMID:19490272 ; PMID:19716085 ; PMID:22378279 ; PMID:22456477 ; PMID:22581653 ; PMID:24912595 ; PMID:25637381 ; PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570682G>A , CM000673.2:g.2570682G>A	GRCh38
NC_000011.9:g.2591912G>A , CM000673.1:g.2591912G>A	GRCh37
NC_000011.8:g.2548488G>A	NCBI36
NG_008935.1:g.130692G>A , LRG_287:g.130692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.271G>A	ENSP00000434560.2:p.Ala91Thr
ENST00000646564.2:c.478-12753G>A	ENSP00000495806.2:n.478-12753G>A
ENST00000155840.12:c.532G>A MANE Select	ENSP00000155840.2:p.Ala178Thr
ENST00000335475.6:c.151G>A	ENSP00000334497.5:p.Ala51Thr
ENST00000646564.1:c.124-12753G>A	ENSP00000495806.1:n.124-12753G>A
ENST00000155840.9:c.532G>A	ENSP00000155840.2:p.Ala178Thr
ENST00000335475.5:c.151G>A	ENSP00000334497.5:p.Ala51Thr
ENST00000496887.6:c.271G>A	ENSP00000434560.1:p.Ala91Thr
NM_000218.2:c.532G>A , LRG_287t1:c.532G>A	NP_000209.2:p.Ala178Thr
NM_181798.1:c.151G>A , LRG_287t2:c.151G>A	NP_861463.1:p.Ala51Thr
NM_000218.3:c.532G>A MANE Select	NP_000209.2:p.Ala178Thr