Canonical Allele Identifier: CA1948292190

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1845855148
• gnomAD v3: 11-2731324-C-CAAAT
• gnomAD v4: 11-2731324-C-CAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2731325_2731328dup , CM000673.2:g.2731325_2731328dup	GRCh38
NC_000011.9:g.2752555_2752558dup , CM000673.1:g.2752555_2752558dup	GRCh37
NC_000011.8:g.2709131_2709134dup	NCBI36
NG_008935.1:g.291335_291338dup , LRG_287:g.291335_291338dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-37519_1158-37516dup	ENSP00000434560.2:n.1158-37519_1158-37516dup
ENST00000646564.2:c.975-37519_975-37516dup	ENSP00000495806.2:n.975-37519_975-37516dup
ENST00000155840.12:c.1515-37519_1515-37516dup MANE Select	ENSP00000155840.2:n.1515-37519_1515-37516dup
ENST00000335475.6:c.1134-37519_1134-37516dup	ENSP00000334497.5:n.1134-37519_1134-37516dup
ENST00000646564.1:c.621-37519_621-37516dup	ENSP00000495806.1:n.621-37519_621-37516dup
ENST00000155840.9:c.1515-37519_1515-37516dup	ENSP00000155840.2:n.1515-37519_1515-37516dup
ENST00000335475.5:c.1134-37519_1134-37516dup	ENSP00000334497.5:n.1134-37519_1134-37516dup
NM_000218.2:c.1515-37519_1515-37516dup , LRG_287t1:c.1515-37519_1515-37516dup	NP_000209.2:n.1515-37519_1515-37516dup
NM_181798.1:c.1134-37519_1134-37516dup , LRG_287t2:c.1134-37519_1134-37516dup	NP_861463.1:n.1134-37519_1134-37516dup
NM_000218.3:c.1515-37519_1515-37516dup MANE Select	NP_000209.2:n.1515-37519_1515-37516dup