Canonical Allele Identifier: CA008486

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67115
• ClinVar RCV Id: RCV000057781 ; RCV000182125 ; RCV000204994 ; RCV002444516
• dbSNP Id: rs199472734
• MyVariant Identifiers: chr11:g.2594145G>A (hg19) ; chr11:g.2572915G>A (hg38)
• PubMed: PMID:14678125 ; PMID:17470695 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572915G>A , CM000673.2:g.2572915G>A	GRCh38
NC_000011.9:g.2594145G>A , CM000673.1:g.2594145G>A	GRCh37
NC_000011.8:g.2550721G>A	NCBI36
NG_008935.1:g.132925G>A , LRG_287:g.132925G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.589G>A	ENSP00000434560.2:p.Glu197Lys
ENST00000646564.2:c.478-10520G>A	ENSP00000495806.2:n.478-10520G>A
ENST00000155840.12:c.850G>A MANE Select	ENSP00000155840.2:p.Glu284Lys
ENST00000335475.6:c.469G>A	ENSP00000334497.5:p.Glu157Lys
ENST00000646564.1:c.124-10520G>A	ENSP00000495806.1:n.124-10520G>A
ENST00000155840.9:c.850G>A	ENSP00000155840.2:p.Glu284Lys
ENST00000335475.5:c.469G>A	ENSP00000334497.5:p.Glu157Lys
NM_000218.2:c.850G>A , LRG_287t1:c.850G>A	NP_000209.2:p.Glu284Lys
NM_181798.1:c.469G>A , LRG_287t2:c.469G>A	NP_861463.1:p.Glu157Lys
NM_000218.3:c.850G>A MANE Select	NP_000209.2:p.Glu284Lys