Canonical Allele Identifier: CA007671

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 191476
• ClinVar RCV Id: RCV000171669 ; RCV000631621 ; RCV001842520 ; RCV002485097 ; RCV002354427
• dbSNP Id: rs200108320
• ExAC: 11:2591970 C / T
• gnomAD v2: 11-2591970-C-T
• gnomAD v3: 11-2570740-C-T
• gnomAD v4: 11-2570740-C-T
• COSMIC: COSM2112986 ; COSM4190786
• MyVariant Identifiers: chr11:g.2591970C>T (hg19) ; chr11:g.2570740C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570740C>T , CM000673.2:g.2570740C>T	GRCh38
NC_000011.9:g.2591970C>T , CM000673.1:g.2591970C>T	GRCh37
NC_000011.8:g.2548546C>T	NCBI36
NG_008935.1:g.130750C>T , LRG_287:g.130750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.329C>T	ENSP00000434560.2:p.Pro110Leu
ENST00000646564.2:c.478-12695C>T	ENSP00000495806.2:n.478-12695C>T
ENST00000155840.12:c.590C>T MANE Select	ENSP00000155840.2:p.Pro197Leu
ENST00000335475.6:c.209C>T	ENSP00000334497.5:p.Pro70Leu
ENST00000646564.1:c.124-12695C>T	ENSP00000495806.1:n.124-12695C>T
ENST00000155840.9:c.590C>T	ENSP00000155840.2:p.Pro197Leu
ENST00000335475.5:c.209C>T	ENSP00000334497.5:p.Pro70Leu
ENST00000496887.6:c.329C>T	ENSP00000434560.1:p.Pro110Leu
NM_000218.2:c.590C>T , LRG_287t1:c.590C>T	NP_000209.2:p.Pro197Leu
NM_181798.1:c.209C>T , LRG_287t2:c.209C>T	NP_861463.1:p.Pro70Leu
NM_000218.3:c.590C>T MANE Select	NP_000209.2:p.Pro197Leu