Canonical Allele Identifier: CA1948242818

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848348455
• gnomAD v4: 11-2572208-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572212_2572213dup , CM000673.2:g.2572212_2572213dup	GRCh38
NC_000011.9:g.2593442_2593443dup , CM000673.1:g.2593442_2593443dup	GRCh37
NC_000011.8:g.2550018_2550019dup	NCBI36
NG_008935.1:g.132222_132223dup , LRG_287:g.132222_132223dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+103_519+104dup	ENSP00000434560.2:n.519+103_519+104dup
ENST00000646564.2:c.478-11223_478-11222dup	ENSP00000495806.2:n.478-11223_478-11222dup
ENST00000155840.12:c.780+103_780+104dup MANE Select	ENSP00000155840.2:n.780+103_780+104dup
ENST00000335475.6:c.399+103_399+104dup	ENSP00000334497.5:n.399+103_399+104dup
ENST00000646564.1:c.124-11223_124-11222dup	ENSP00000495806.1:n.124-11223_124-11222dup
ENST00000155840.9:c.780+103_780+104dup	ENSP00000155840.2:n.780+103_780+104dup
ENST00000335475.5:c.399+103_399+104dup	ENSP00000334497.5:n.399+103_399+104dup
ENST00000496887.6:c.519+103_519+104dup	ENSP00000434560.1:n.519+103_519+104dup
NM_000218.2:c.780+103_780+104dup , LRG_287t1:c.780+103_780+104dup	NP_000209.2:n.780+103_780+104dup
NM_181798.1:c.399+103_399+104dup , LRG_287t2:c.399+103_399+104dup	NP_861463.1:n.399+103_399+104dup
NM_000218.3:c.780+103_780+104dup MANE Select	NP_000209.2:n.780+103_780+104dup