Canonical Allele Identifier: CA007272

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53053
• ClinVar RCV Id: RCV000057685 ; RCV000182077 ; RCV000618982 ; RCV000627154
• dbSNP Id: rs179489
• gnomAD v2: 11-2591882-G-C
• gnomAD v4: 11-2570652-G-C
• MyVariant Identifiers: chr11:g.2591882G>C (hg19) ; chr11:g.2570652G>C (hg38)
• PubMed: PMID:9386136 ; PMID:9693036 ; PMID:10973849 ; PMID:12402336 ; PMID:12566525 ; PMID:14531214 ; PMID:15051636 ; PMID:17091796 ; PMID:17470695 ; PMID:19490272 ; PMID:19716085 ; PMID:20186784 ; PMID:22581653 ; PMID:22949429 ; PMID:27041150 ; PMID:27485560 ; PMID:27921062 ; PMID:28749187

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570652G>C , CM000673.2:g.2570652G>C	GRCh38
NC_000011.9:g.2591882G>C , CM000673.1:g.2591882G>C	GRCh37
NC_000011.8:g.2548458G>C	NCBI36
NG_008935.1:g.130662G>C , LRG_287:g.130662G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.241G>C	ENSP00000434560.2:p.Gly81Arg
ENST00000646564.2:c.478-12783G>C	ENSP00000495806.2:n.478-12783G>C
ENST00000155840.12:c.502G>C MANE Select	ENSP00000155840.2:p.Gly168Arg
ENST00000335475.6:c.121G>C	ENSP00000334497.5:p.Gly41Arg
ENST00000646564.1:c.124-12783G>C	ENSP00000495806.1:n.124-12783G>C
ENST00000155840.9:c.502G>C	ENSP00000155840.2:p.Gly168Arg
ENST00000335475.5:c.121G>C	ENSP00000334497.5:p.Gly41Arg
ENST00000496887.6:c.241G>C	ENSP00000434560.1:p.Gly81Arg
NM_000218.2:c.502G>C , LRG_287t1:c.502G>C	NP_000209.2:p.Gly168Arg
NM_181798.1:c.121G>C , LRG_287t2:c.121G>C	NP_861463.1:p.Gly41Arg
NM_000218.3:c.502G>C MANE Select	NP_000209.2:p.Gly168Arg