Canonical Allele Identifier: CA007641

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67088
• ClinVar RCV Id: RCV000057714 ; RCV000231075 ; RCV000618352 ; RCV001193175 ; RCV001841688 ; RCV003335087
• dbSNP Id: rs138362632
• ExAC: 11:2591964 G / A
• gnomAD v2: 11-2591964-G-A
• gnomAD v3: 11-2570734-G-A
• gnomAD v4: 11-2570734-G-A
• MyVariant Identifiers: chr11:g.2591964G>A (hg19) ; chr11:g.2570734G>A (hg38)
• PubMed: PMID:19841300 ; PMID:22581653 ; PMID:23861362 ; PMID:23861489 ; PMID:25564853

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570734G>A , CM000673.2:g.2570734G>A	GRCh38
NC_000011.9:g.2591964G>A , CM000673.1:g.2591964G>A	GRCh37
NC_000011.8:g.2548540G>A	NCBI36
NG_008935.1:g.130744G>A , LRG_287:g.130744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.323G>A	ENSP00000434560.2:p.Arg108Gln
ENST00000646564.2:c.478-12701G>A	ENSP00000495806.2:n.478-12701G>A
ENST00000155840.12:c.584G>A MANE Select	ENSP00000155840.2:p.Arg195Gln
ENST00000335475.6:c.203G>A	ENSP00000334497.5:p.Arg68Gln
ENST00000646564.1:c.124-12701G>A	ENSP00000495806.1:n.124-12701G>A
ENST00000155840.9:c.584G>A	ENSP00000155840.2:p.Arg195Gln
ENST00000335475.5:c.203G>A	ENSP00000334497.5:p.Arg68Gln
ENST00000496887.6:c.323G>A	ENSP00000434560.1:p.Arg108Gln
NM_000218.2:c.584G>A , LRG_287t1:c.584G>A	NP_000209.2:p.Arg195Gln
NM_181798.1:c.203G>A , LRG_287t2:c.203G>A	NP_861463.1:p.Arg68Gln
NM_000218.3:c.584G>A MANE Select	NP_000209.2:p.Arg195Gln