Canonical Allele Identifier: CA008676

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3134
• ClinVar RCV Id: RCV000003282 ; RCV002512697
• dbSNP Id: rs387906290
• MyVariant Identifiers: chr11:g.2604664G>C (hg19) ; chr11:g.2583434G>C (hg38)
• PubMed: PMID:10477533

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583434G>C , CM000673.2:g.2583434G>C	GRCh38
NC_000011.9:g.2604664G>C , CM000673.1:g.2604664G>C	GRCh37
NC_000011.8:g.2561240G>C	NCBI36
NG_008935.1:g.143444G>C , LRG_287:g.143444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-1G>C	ENSP00000434560.2:n.661-1G>C
ENST00000646564.2:c.478-1G>C	ENSP00000495806.2:n.478-1G>C
ENST00000155840.12:c.922-1G>C MANE Select	ENSP00000155840.2:n.922-1G>C
ENST00000335475.6:c.541-1G>C	ENSP00000334497.5:n.541-1G>C
ENST00000646564.1:c.124-1G>C	ENSP00000495806.1:n.124-1G>C
ENST00000155840.9:c.922-1G>C	ENSP00000155840.2:n.922-1G>C
ENST00000335475.5:c.541-1G>C	ENSP00000334497.5:n.541-1G>C
NM_000218.2:c.922-1G>C , LRG_287t1:c.922-1G>C	NP_000209.2:n.922-1G>C
NM_181798.1:c.541-1G>C , LRG_287t2:c.541-1G>C	NP_861463.1:n.541-1G>C
NM_000218.3:c.922-1G>C MANE Select	NP_000209.2:n.922-1G>C