Canonical Allele Identifier: CA472038237

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2107511
• ClinVar RCV Id: RCV003029251
• MyVariant Identifiers: chr11:g.2549197G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527967G>A , CM000673.2:g.2527967G>A	GRCh38
NC_000011.9:g.2549197G>A , CM000673.1:g.2549197G>A	GRCh37
NC_000011.8:g.2505773G>A	NCBI36
NG_008935.1:g.87977G>A , LRG_287:g.87977G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.223G>A
ENST00000496887.7:c.165G>A	ENSP00000434560.2:p.Leu55=
ENST00000646564.2:c.426G>A	ENSP00000495806.2:p.Leu142=
ENST00000155840.12:c.426G>A MANE Select	ENSP00000155840.2:p.Leu142=
ENST00000335475.6:c.45G>A	ENSP00000334497.5:p.Leu15=
ENST00000646564.1:c.72G>A	ENSP00000495806.1:p.Leu24=
ENST00000155840.9:c.426G>A	ENSP00000155840.2:p.Leu142=
ENST00000335475.5:c.45G>A	ENSP00000334497.5:p.Leu15=
ENST00000345015.4:n.295G>A
ENST00000380776.4:c.216G>A	ENSP00000370153.4:p.Leu72=
ENST00000496887.6:c.165G>A	ENSP00000434560.1:p.Leu55=
NM_000218.2:c.426G>A , LRG_287t1:c.426G>A	NP_000209.2:p.Leu142=
NM_181798.1:c.45G>A , LRG_287t2:c.45G>A	NP_861463.1:p.Leu15=
NM_000218.3:c.426G>A MANE Select	NP_000209.2:p.Leu142=