Canonical Allele Identifier: CA379139015

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2574002
• ClinVar RCV Id: RCV003318431
• MyVariant Identifiers: chr11:g.2790138A>G (hg19) ; chr11:g.2768908A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768908A>G , CM000673.2:g.2768908A>G	GRCh38
NC_000011.9:g.2790138A>G , CM000673.1:g.2790138A>G	GRCh37
NC_000011.8:g.2746714A>G	NCBI36
NG_008935.1:g.328918A>G , LRG_287:g.328918A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1222A>G	ENSP00000434560.2:p.Lys408Glu
ENST00000646564.2:c.1039A>G	ENSP00000495806.2:p.Lys347Glu
ENST00000155840.12:c.1579A>G MANE Select	ENSP00000155840.2:p.Lys527Glu
ENST00000335475.6:c.1198A>G	ENSP00000334497.5:p.Lys400Glu
ENST00000646564.1:c.685A>G	ENSP00000495806.1:p.Lys229Glu
ENST00000155840.9:c.1579A>G	ENSP00000155840.2:p.Lys527Glu
ENST00000335475.5:c.1198A>G	ENSP00000334497.5:p.Lys400Glu
NM_000218.2:c.1579A>G , LRG_287t1:c.1579A>G	NP_000209.2:p.Lys527Glu
NM_181798.1:c.1198A>G , LRG_287t2:c.1198A>G	NP_861463.1:p.Lys400Glu
NM_000218.3:c.1579A>G MANE Select	NP_000209.2:p.Lys527Glu