Canonical Allele Identifier: CA007440

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53065
• ClinVar RCV Id: RCV000057700 ; RCV001379025 ; RCV002223780
• dbSNP Id: rs199473398
• MyVariant Identifiers: chr11:g.2591936G>C (hg19) ; chr11:g.2570706G>C (hg38)
• PubMed: PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570706G>C , CM000673.2:g.2570706G>C	GRCh38
NC_000011.9:g.2591936G>C , CM000673.1:g.2591936G>C	GRCh37
NC_000011.8:g.2548512G>C	NCBI36
NG_008935.1:g.130716G>C , LRG_287:g.130716G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.295G>C	ENSP00000434560.2:p.Gly99Arg
ENST00000646564.2:c.478-12729G>C	ENSP00000495806.2:n.478-12729G>C
ENST00000155840.12:c.556G>C MANE Select	ENSP00000155840.2:p.Gly186Arg
ENST00000335475.6:c.175G>C	ENSP00000334497.5:p.Gly59Arg
ENST00000646564.1:c.124-12729G>C	ENSP00000495806.1:n.124-12729G>C
ENST00000155840.9:c.556G>C	ENSP00000155840.2:p.Gly186Arg
ENST00000335475.5:c.175G>C	ENSP00000334497.5:p.Gly59Arg
ENST00000496887.6:c.295G>C	ENSP00000434560.1:p.Gly99Arg
NM_000218.2:c.556G>C , LRG_287t1:c.556G>C	NP_000209.2:p.Gly186Arg
NM_181798.1:c.175G>C , LRG_287t2:c.175G>C	NP_861463.1:p.Gly59Arg
NM_000218.3:c.556G>C MANE Select	NP_000209.2:p.Gly186Arg