Canonical Allele Identifier: CA2580077782

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1793543
• ClinVar RCV Id: RCV002426159

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948548_150948558del , CM000669.2:g.150948548_150948558del	GRCh38
NC_000007.13:g.150645636_150645646del , CM000669.1:g.150645636_150645646del	GRCh37
NC_000007.12:g.150276569_150276579del	NCBI36
NG_008916.1:g.34369_34379del , LRG_288:g.34369_34379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-15_3426-5del
ENST00000262186.10:c.2593-15_2593-5del MANE Select	ENSP00000262186.5:n.2593-15_2593-5del
ENST00000330883.9:c.1573-15_1573-5del	ENSP00000328531.4:n.1573-15_1573-5del
ENST00000262186.9:c.2593-15_2593-5del	ENSP00000262186.5:n.2593-15_2593-5del
ENST00000330883.8:c.1573-15_1573-5del	ENSP00000328531.4:n.1573-15_1573-5del
NM_000238.3:c.2593-15_2593-5del , LRG_288t1:c.2593-15_2593-5del	NP_000229.1:n.2593-15_2593-5del
NM_172057.2:c.1573-15_1573-5del , LRG_288t3:c.1573-15_1573-5del	NP_742054.1:n.1573-15_1573-5del
XM_011516185.1:c.2293-15_2293-5del	XP_011514487.1:n.2293-15_2293-5del
XM_011516186.1:c.2593-15_2593-5del	XP_011514488.1:n.2593-15_2593-5del
XM_011516185.2:c.2293-15_2293-5del	XP_011514487.1:n.2293-15_2293-5del
XM_011516186.3:c.2593-15_2593-5del	XP_011514488.1:n.2593-15_2593-5del
XM_017012195.1:c.2443-15_2443-5del	XP_016867684.1:n.2443-15_2443-5del
XM_017012196.1:c.2416-15_2416-5del	XP_016867685.1:n.2416-15_2416-5del
NM_000238.4:c.2593-15_2593-5del MANE Select	NP_000229.1:n.2593-15_2593-5del
NM_172057.3:c.1573-15_1573-5del	NP_742054.1:n.1573-15_1573-5del