Canonical Allele Identifier: CA006206

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53005
• ClinVar RCV Id: RCV000046014 ; RCV000057618 ; RCV000505737
• dbSNP Id: rs199472804
• gnomAD v4: 11-2776997-C-A
• MyVariant Identifiers: chr11:g.2798227C>A (hg19) ; chr11:g.2776997C>A (hg38)
• PubMed: PMID:15840476 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776997C>A , CM000673.2:g.2776997C>A	GRCh38
NC_000011.9:g.2798227C>A , CM000673.1:g.2798227C>A	GRCh37
NC_000011.8:g.2754803C>A	NCBI36
NG_008935.1:g.337007C>A , LRG_287:g.337007C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1340C>A	ENSP00000434560.2:p.Ser447Tyr
ENST00000646564.2:c.1157C>A	ENSP00000495806.2:p.Ser386Tyr
ENST00000155840.12:c.1697C>A MANE Select	ENSP00000155840.2:p.Ser566Tyr
ENST00000335475.6:c.1316C>A	ENSP00000334497.5:p.Ser439Tyr
ENST00000646564.1:c.803C>A	ENSP00000495806.1:p.Ser268Tyr
ENST00000155840.9:c.1697C>A	ENSP00000155840.2:p.Ser566Tyr
ENST00000335475.5:c.1316C>A	ENSP00000334497.5:p.Ser439Tyr
NM_000218.2:c.1697C>A , LRG_287t1:c.1697C>A	NP_000209.2:p.Ser566Tyr
NM_181798.1:c.1316C>A , LRG_287t2:c.1316C>A	NP_861463.1:p.Ser439Tyr
NM_000218.3:c.1697C>A MANE Select	NP_000209.2:p.Ser566Tyr