Canonical Allele Identifier: CA16613516

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 405269
• ClinVar RCV Id: RCV000470879 ; RCV002379420
• dbSNP Id: rs794728522
• MyVariant Identifiers: chr11:g.2604768T>A (hg19) ; chr11:g.2583538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583538T>A , CM000673.2:g.2583538T>A	GRCh38
NC_000011.9:g.2604768T>A , CM000673.1:g.2604768T>A	GRCh37
NC_000011.8:g.2561344T>A	NCBI36
NG_008935.1:g.143548T>A , LRG_287:g.143548T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.764T>A	ENSP00000434560.2:p.Leu255His
ENST00000646564.2:c.581T>A	ENSP00000495806.2:p.Leu194His
ENST00000155840.12:c.1025T>A MANE Select	ENSP00000155840.2:p.Leu342His
ENST00000335475.6:c.644T>A	ENSP00000334497.5:p.Leu215His
ENST00000646564.1:c.227T>A	ENSP00000495806.1:p.Leu76His
ENST00000155840.9:c.1025T>A	ENSP00000155840.2:p.Leu342His
ENST00000335475.5:c.644T>A	ENSP00000334497.5:p.Leu215His
NM_000218.2:c.1025T>A , LRG_287t1:c.1025T>A	NP_000209.2:p.Leu342His
NM_181798.1:c.644T>A , LRG_287t2:c.644T>A	NP_861463.1:p.Leu215His
NM_000218.3:c.1025T>A MANE Select	NP_000209.2:p.Leu342His