Canonical Allele Identifier: CA915947935

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 817280
• ClinVar RCV Id: RCV001008398 ; RCV002549288
• dbSNP Id: rs1589957697
• gnomAD v4: 11-2572019-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572021_2572022dup , CM000673.2:g.2572021_2572022dup	GRCh38
NC_000011.9:g.2593251_2593252dup , CM000673.1:g.2593251_2593252dup	GRCh37
NC_000011.8:g.2549827_2549828dup	NCBI36
NG_008935.1:g.132031_132032dup , LRG_287:g.132031_132032dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.431_432dup	ENSP00000434560.2:p.Phe145AlafsTer6
ENST00000646564.2:c.478-11414_478-11413dup	ENSP00000495806.2:n.478-11414_478-11413dup
ENST00000155840.12:c.692_693dup MANE Select	ENSP00000155840.2:p.Phe232AlafsTer6
ENST00000335475.6:c.311_312dup	ENSP00000334497.5:p.Phe105AlafsTer6
ENST00000646564.1:c.124-11414_124-11413dup	ENSP00000495806.1:n.124-11414_124-11413dup
ENST00000155840.9:c.692_693dup	ENSP00000155840.2:p.Phe232AlafsTer6
ENST00000335475.5:c.311_312dup	ENSP00000334497.5:p.Phe105AlafsTer6
ENST00000496887.6:c.431_432dup	ENSP00000434560.1:p.Phe145AlafsTer6
NM_000218.2:c.692_693dup , LRG_287t1:c.692_693dup	NP_000209.2:p.Phe232AlafsTer6
NM_181798.1:c.311_312dup , LRG_287t2:c.311_312dup	NP_861463.1:p.Phe105AlafsTer6
NM_000218.3:c.692_693dup MANE Select	NP_000209.2:p.Phe232AlafsTer6