Canonical Allele Identifier: CA2580082640

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1995429
• ClinVar RCV Id: RCV002819303

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572994_2573001dup , CM000673.2:g.2572994_2573001dup	GRCh38
NC_000011.9:g.2594224_2594231dup , CM000673.1:g.2594224_2594231dup	GRCh37
NC_000011.8:g.2550800_2550807dup	NCBI36
NG_008935.1:g.133004_133011dup , LRG_287:g.133004_133011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.660+8_660+15dup	ENSP00000434560.2:n.660+8_660+15dup
ENST00000646564.2:c.478-10441_478-10434dup	ENSP00000495806.2:n.478-10441_478-10434dup
ENST00000155840.12:c.921+8_921+15dup MANE Select	ENSP00000155840.2:n.921+8_921+15dup
ENST00000335475.6:c.540+8_540+15dup	ENSP00000334497.5:n.540+8_540+15dup
ENST00000646564.1:c.124-10441_124-10434dup	ENSP00000495806.1:n.124-10441_124-10434dup
ENST00000155840.9:c.921+8_921+15dup	ENSP00000155840.2:n.921+8_921+15dup
ENST00000335475.5:c.540+8_540+15dup	ENSP00000334497.5:n.540+8_540+15dup
NM_000218.2:c.921+8_921+15dup , LRG_287t1:c.921+8_921+15dup	NP_000209.2:n.921+8_921+15dup
NM_181798.1:c.540+8_540+15dup , LRG_287t2:c.540+8_540+15dup	NP_861463.1:n.540+8_540+15dup
NM_000218.3:c.921+8_921+15dup MANE Select	NP_000209.2:n.921+8_921+15dup