Canonical Allele Identifier: CA379121170

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549163T>G (hg19) ; chr11:g.2527933T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527933T>G , CM000673.2:g.2527933T>G	GRCh38
NC_000011.9:g.2549163T>G , CM000673.1:g.2549163T>G	GRCh37
NC_000011.8:g.2505739T>G	NCBI36
NG_008935.1:g.87943T>G , LRG_287:g.87943T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.189T>G
ENST00000496887.7:c.131T>G	ENSP00000434560.2:p.Leu44Arg
ENST00000646564.2:c.392T>G	ENSP00000495806.2:p.Leu131Arg
ENST00000155840.12:c.392T>G MANE Select	ENSP00000155840.2:p.Leu131Arg
ENST00000335475.6:c.11T>G	ENSP00000334497.5:p.Leu4Arg
ENST00000646564.1:c.38T>G	ENSP00000495806.1:p.Leu13Arg
ENST00000155840.9:c.392T>G	ENSP00000155840.2:p.Leu131Arg
ENST00000335475.5:c.11T>G	ENSP00000334497.5:p.Leu4Arg
ENST00000345015.4:n.261T>G
ENST00000380776.4:c.182T>G	ENSP00000370153.4:p.Leu61Arg
ENST00000496887.6:c.131T>G	ENSP00000434560.1:p.Leu44Arg
NM_000218.2:c.392T>G , LRG_287t1:c.392T>G	NP_000209.2:p.Leu131Arg
NM_181798.1:c.11T>G , LRG_287t2:c.11T>G	NP_861463.1:p.Leu4Arg
NM_000218.3:c.392T>G MANE Select	NP_000209.2:p.Leu131Arg