Canonical Allele Identifier: CA007432

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67082
• ClinVar RCV Id: RCV000057699 ; RCV000779057 ; RCV003996517
• dbSNP Id: rs199473398
• MyVariant Identifiers: chr11:g.2591936G>A (hg19) ; chr11:g.2570706G>A (hg38)
• PubMed: PMID:14678125 ; PMID:17470695 ; PMID:19862833 ; PMID:22581653

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.295G>A	ENSP00000434560.2:p.Gly99Ser
ENST00000646564.2:c.478-12729G>A	ENSP00000495806.2:n.478-12729G>A
ENST00000155840.12:c.556G>A MANE Select	ENSP00000155840.2:p.Gly186Ser
ENST00000335475.6:c.175G>A	ENSP00000334497.5:p.Gly59Ser
ENST00000646564.1:c.124-12729G>A	ENSP00000495806.1:n.124-12729G>A
ENST00000155840.9:c.556G>A	ENSP00000155840.2:p.Gly186Ser
ENST00000335475.5:c.175G>A	ENSP00000334497.5:p.Gly59Ser
ENST00000496887.6:c.295G>A	ENSP00000434560.1:p.Gly99Ser
NM_000218.2:c.556G>A , LRG_287t1:c.556G>A	NP_000209.2:p.Gly186Ser
NM_181798.1:c.175G>A , LRG_287t2:c.175G>A	NP_861463.1:p.Gly59Ser
NM_000218.3:c.556G>A MANE Select	NP_000209.2:p.Gly186Ser