Canonical Allele Identifier: CA379139027

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 922455
• ClinVar RCV Id: RCV001843128
• dbSNP Id: rs1846543781
• MyVariant Identifiers: chr11:g.2790142A>G (hg19) ; chr11:g.2768912A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768912A>G , CM000673.2:g.2768912A>G	GRCh38
NC_000011.9:g.2790142A>G , CM000673.1:g.2790142A>G	GRCh37
NC_000011.8:g.2746718A>G	NCBI36
NG_008935.1:g.328922A>G , LRG_287:g.328922A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1226A>G	ENSP00000434560.2:p.Lys409Arg
ENST00000646564.2:c.1043A>G	ENSP00000495806.2:p.Lys348Arg
ENST00000155840.12:c.1583A>G MANE Select	ENSP00000155840.2:p.Lys528Arg
ENST00000335475.6:c.1202A>G	ENSP00000334497.5:p.Lys401Arg
ENST00000646564.1:c.689A>G	ENSP00000495806.1:p.Lys230Arg
ENST00000155840.9:c.1583A>G	ENSP00000155840.2:p.Lys528Arg
ENST00000335475.5:c.1202A>G	ENSP00000334497.5:p.Lys401Arg
NM_000218.2:c.1583A>G , LRG_287t1:c.1583A>G	NP_000209.2:p.Lys528Arg
NM_181798.1:c.1202A>G , LRG_287t2:c.1202A>G	NP_861463.1:p.Lys401Arg
NM_000218.3:c.1583A>G MANE Select	NP_000209.2:p.Lys528Arg