Canonical Allele Identifier: CA006388

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53018
• ClinVar RCV Id: RCV000046031 ; RCV000057637 ; RCV000182228 ; RCV000247524 ; RCV001258107 ; RCV001731336 ; RCV003224128 ; RCV002496702 ; RCV003591639
• dbSNP Id: rs199472815
• ExAC: 11:2799254 G / A
• gnomAD v2: 11-2799254-G-A
• gnomAD v3: 11-2778024-G-A
• gnomAD v4: 11-2778024-G-A
• MyVariant Identifiers: chr11:g.2799254G>A (hg19) ; chr11:g.2778024G>A (hg38)
• PubMed: PMID:10973849 ; PMID:11140949 ; PMID:11530100 ; PMID:12402336 ; PMID:14678125 ; PMID:15051636 ; PMID:15140888 ; PMID:15840476 ; PMID:15935335 ; PMID:16818214 ; PMID:17329207 ; PMID:17329209 ; PMID:17470695 ; PMID:17905336 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653 ; PMID:22949429 ; PMID:23124029 ; PMID:24912595 ; PMID:25453094 ; PMID:27041096 ; PMID:27470144

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778024G>A , CM000673.2:g.2778024G>A	GRCh38
NC_000011.9:g.2799254G>A , CM000673.1:g.2799254G>A	GRCh37
NC_000011.8:g.2755830G>A	NCBI36
NG_008935.1:g.338034G>A , LRG_287:g.338034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1424G>A	ENSP00000434560.2:p.Arg475Gln
ENST00000646564.2:c.1241G>A	ENSP00000495806.2:p.Arg414Gln
ENST00000155840.12:c.1781G>A MANE Select	ENSP00000155840.2:p.Arg594Gln
ENST00000335475.6:c.1400G>A	ENSP00000334497.5:p.Arg467Gln
ENST00000526095.2:c.185G>A	ENSP00000494939.1:p.Arg62Gln
ENST00000646564.1:c.887G>A	ENSP00000495806.1:p.Arg296Gln
ENST00000155840.9:c.1781G>A	ENSP00000155840.2:p.Arg594Gln
ENST00000335475.5:c.1400G>A	ENSP00000334497.5:p.Arg467Gln
ENST00000526095.1:n.288G>A
NM_000218.2:c.1781G>A , LRG_287t1:c.1781G>A	NP_000209.2:p.Arg594Gln
NM_181798.1:c.1400G>A , LRG_287t2:c.1400G>A	NP_861463.1:p.Arg467Gln
NM_000218.3:c.1781G>A MANE Select	NP_000209.2:p.Arg594Gln