Canonical Allele Identifier: CA913188259

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3076042
• ClinVar RCV Id: RCV004018360

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952854dup , CM000669.2:g.150952854dup	GRCh38
NC_000007.13:g.150649942dup , CM000669.1:g.150649942dup	GRCh37
NC_000007.12:g.150280875dup	NCBI36
NG_008916.1:g.30074dup , LRG_288:g.30074dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.427dup
ENST00000684116.1:n.22dup
ENST00000684241.1:n.1962dup
ENST00000262186.10:c.1129dup
ENST00000330883.9:c.109dup
ENST00000262186.9:c.1129dup
ENST00000330883.8:c.109dup
ENST00000430723.4:c.781dup
ENST00000461280.1:n.416dup
ENST00000473610.5:n.434dup
ENST00000532957.5:n.1352dup
NM_000238.3:c.1129dup , LRG_288t1:c.1129dup
NM_001204798.1:c.109dup
NM_172056.2:c.1129dup , LRG_288t2:c.1129dup
NM_172057.2:c.109dup , LRG_288t3:c.109dup
XM_011516185.1:c.829dup
XM_011516186.1:c.1129dup
XM_011516185.2:c.829dup
XM_011516186.3:c.1129dup
XM_017012195.1:c.979dup
XM_017012196.1:c.952dup
NM_000238.4:c.1129dup
NM_001204798.2:c.109dup
NM_172057.3:c.109dup