Canonical Allele Identifier: CA026681

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 511704
• ClinVar RCV Id: RCV000613301 ; RCV002064030 ; RCV001841505
• dbSNP Id: rs201009813
• ExAC: 11:2604751 C / T
• gnomAD v2: 11-2604751-C-T
• gnomAD v3: 11-2583521-C-T
• gnomAD v4: 11-2583521-C-T
• MyVariant Identifiers: chr11:g.2604751C>T (hg19) ; chr11:g.2583521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583521C>T , CM000673.2:g.2583521C>T	GRCh38
NC_000011.9:g.2604751C>T , CM000673.1:g.2604751C>T	GRCh37
NC_000011.8:g.2561327C>T	NCBI36
NG_008935.1:g.143531C>T , LRG_287:g.143531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.747C>T	ENSP00000434560.2:p.Ala249=
ENST00000646564.2:c.564C>T	ENSP00000495806.2:p.Ala188=
ENST00000155840.12:c.1008C>T MANE Select	ENSP00000155840.2:p.Ala336=
ENST00000335475.6:c.627C>T	ENSP00000334497.5:p.Ala209=
ENST00000646564.1:c.210C>T	ENSP00000495806.1:p.Ala70=
ENST00000155840.9:c.1008C>T	ENSP00000155840.2:p.Ala336=
ENST00000335475.5:c.627C>T	ENSP00000334497.5:p.Ala209=
NM_000218.2:c.1008C>T , LRG_287t1:c.1008C>T	NP_000209.2:p.Ala336=
NM_181798.1:c.627C>T , LRG_287t2:c.627C>T	NP_861463.1:p.Ala209=
NM_000218.3:c.1008C>T MANE Select	NP_000209.2:p.Ala336=