Canonical Allele Identifier: CA472416272

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 745600
• ClinVar RCV Id: RCV000922160
• dbSNP Id: rs1589884566
• MyVariant Identifiers: chr11:g.2466691A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445461A>G , CM000673.2:g.2445461A>G	GRCh38
NC_000011.9:g.2466691A>G , CM000673.1:g.2466691A>G	GRCh37
NC_000011.8:g.2423267A>G	NCBI36
NG_008935.1:g.5471A>G , LRG_287:g.5471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.102A>G	ENSP00000434560.2:p.Lys34=
ENST00000646564.2:c.363A>G	ENSP00000495806.2:p.Lys121=
ENST00000155840.12:c.363A>G MANE Select	ENSP00000155840.2:p.Lys121=
ENST00000646564.1:c.9A>G	ENSP00000495806.1:p.Lys3=
ENST00000155840.9:c.363A>G	ENSP00000155840.2:p.Lys121=
ENST00000345015.4:n.140A>G
ENST00000496887.6:c.102A>G	ENSP00000434560.1:p.Lys34=
NM_000218.2:c.363A>G , LRG_287t1:c.363A>G	NP_000209.2:p.Lys121=
NM_000218.3:c.363A>G MANE Select	NP_000209.2:p.Lys121=