Canonical Allele Identifier: CA16613282

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 405253
• ClinVar RCV Id: RCV000472738
• dbSNP Id: rs1060500621

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572846_2572847delinsTT , CM000673.2:g.2572846_2572847delinsTT	GRCh38
NC_000011.9:g.2594076_2594077delinsTT , CM000673.1:g.2594076_2594077delinsTT	GRCh37
NC_000011.8:g.2550652_2550653delinsTT	NCBI36
NG_008935.1:g.132856_132857delinsTT , LRG_287:g.132856_132857delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.520_521delinsTT	ENSP00000434560.2:p.Glu174Leu
ENST00000646564.2:c.478-10589_478-10588delinsTT	ENSP00000495806.2:n.478-10589_478-10588delinsTT
ENST00000155840.12:c.781_782delinsTT MANE Select	ENSP00000155840.2:p.Glu261Leu
ENST00000335475.6:c.400_401delinsTT	ENSP00000334497.5:p.Glu134Leu
ENST00000646564.1:c.124-10589_124-10588delinsTT	ENSP00000495806.1:n.124-10589_124-10588delinsTT
ENST00000155840.9:c.781_782delinsTT	ENSP00000155840.2:p.Glu261Leu
ENST00000335475.5:c.400_401delinsTT	ENSP00000334497.5:p.Glu134Leu
ENST00000496887.6:c.520_521delinsTT	ENSP00000434560.1:p.Glu174Leu
NM_000218.2:c.781_782delinsTT , LRG_287t1:c.781_782delinsTT	NP_000209.2:p.Glu261Leu
NM_181798.1:c.400_401delinsTT , LRG_287t2:c.400_401delinsTT	NP_861463.1:p.Glu134Leu
NM_000218.3:c.781_782delinsTT MANE Select	NP_000209.2:p.Glu261Leu