Canonical Allele Identifier: CA007460

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53066
• ClinVar RCV Id: RCV000046081 ; RCV000057701 ; RCV000182084
• dbSNP Id: rs199473399
• ExAC: 11:2591940 T / C
• gnomAD v2: 11-2591940-T-C
• gnomAD v4: 11-2570710-T-C
• MyVariant Identifiers: chr11:g.2591940T>C (hg19) ; chr11:g.2570710T>C (hg38)
• PubMed: PMID:18808722 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570710T>C , CM000673.2:g.2570710T>C	GRCh38
NC_000011.9:g.2591940T>C , CM000673.1:g.2591940T>C	GRCh37
NC_000011.8:g.2548516T>C	NCBI36
NG_008935.1:g.130720T>C , LRG_287:g.130720T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.299T>C	ENSP00000434560.2:p.Leu100Pro
ENST00000646564.2:c.478-12725T>C	ENSP00000495806.2:n.478-12725T>C
ENST00000155840.12:c.560T>C MANE Select	ENSP00000155840.2:p.Leu187Pro
ENST00000335475.6:c.179T>C	ENSP00000334497.5:p.Leu60Pro
ENST00000646564.1:c.124-12725T>C	ENSP00000495806.1:n.124-12725T>C
ENST00000155840.9:c.560T>C	ENSP00000155840.2:p.Leu187Pro
ENST00000335475.5:c.179T>C	ENSP00000334497.5:p.Leu60Pro
ENST00000496887.6:c.299T>C	ENSP00000434560.1:p.Leu100Pro
NM_000218.2:c.560T>C , LRG_287t1:c.560T>C	NP_000209.2:p.Leu187Pro
NM_181798.1:c.179T>C , LRG_287t2:c.179T>C	NP_861463.1:p.Leu60Pro
NM_000218.3:c.560T>C MANE Select	NP_000209.2:p.Leu187Pro