Canonical Allele Identifier: CA1948242824

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848348675
• gnomAD v4: 11-2572218-T-TGGGTGCCTGGGCGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572223_2572238dup , CM000673.2:g.2572223_2572238dup	GRCh38
NC_000011.9:g.2593453_2593468dup , CM000673.1:g.2593453_2593468dup	GRCh37
NC_000011.8:g.2550029_2550044dup	NCBI36
NG_008935.1:g.132233_132248dup , LRG_287:g.132233_132248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+114_519+129dup	ENSP00000434560.2:n.519+114_519+129dup
ENST00000646564.2:c.478-11212_478-11197dup	ENSP00000495806.2:n.478-11212_478-11197dup
ENST00000155840.12:c.780+114_780+129dup MANE Select	ENSP00000155840.2:n.780+114_780+129dup
ENST00000335475.6:c.399+114_399+129dup	ENSP00000334497.5:n.399+114_399+129dup
ENST00000646564.1:c.124-11212_124-11197dup	ENSP00000495806.1:n.124-11212_124-11197dup
ENST00000155840.9:c.780+114_780+129dup	ENSP00000155840.2:n.780+114_780+129dup
ENST00000335475.5:c.399+114_399+129dup	ENSP00000334497.5:n.399+114_399+129dup
ENST00000496887.6:c.519+114_519+129dup	ENSP00000434560.1:n.519+114_519+129dup
NM_000218.2:c.780+114_780+129dup , LRG_287t1:c.780+114_780+129dup	NP_000209.2:n.780+114_780+129dup
NM_181798.1:c.399+114_399+129dup , LRG_287t2:c.399+114_399+129dup	NP_861463.1:n.399+114_399+129dup
NM_000218.3:c.780+114_780+129dup MANE Select	NP_000209.2:n.780+114_780+129dup