Canonical Allele Identifier: CA2685600555

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948586-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948586_150948587insA , CM000669.2:g.150948586_150948587insA	GRCh38
NC_000007.13:g.150645674_150645675insA , CM000669.1:g.150645674_150645675insA	GRCh37
NC_000007.12:g.150276607_150276608insA	NCBI36
NG_008916.1:g.34340_34341insT , LRG_288:g.34340_34341insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-44_3426-43insT
ENST00000262186.10:c.2593-44_2593-43insT MANE Select	ENSP00000262186.5:n.2593-44_2593-43insT
ENST00000330883.9:c.1573-44_1573-43insT	ENSP00000328531.4:n.1573-44_1573-43insT
ENST00000262186.9:c.2593-44_2593-43insT	ENSP00000262186.5:n.2593-44_2593-43insT
ENST00000330883.8:c.1573-44_1573-43insT	ENSP00000328531.4:n.1573-44_1573-43insT
NM_000238.3:c.2593-44_2593-43insT , LRG_288t1:c.2593-44_2593-43insT	NP_000229.1:n.2593-44_2593-43insT
NM_172057.2:c.1573-44_1573-43insT , LRG_288t3:c.1573-44_1573-43insT	NP_742054.1:n.1573-44_1573-43insT
XM_011516185.1:c.2293-44_2293-43insT	XP_011514487.1:n.2293-44_2293-43insT
XM_011516186.1:c.2593-44_2593-43insT	XP_011514488.1:n.2593-44_2593-43insT
XM_011516185.2:c.2293-44_2293-43insT	XP_011514487.1:n.2293-44_2293-43insT
XM_011516186.3:c.2593-44_2593-43insT	XP_011514488.1:n.2593-44_2593-43insT
XM_017012195.1:c.2443-44_2443-43insT	XP_016867684.1:n.2443-44_2443-43insT
XM_017012196.1:c.2416-44_2416-43insT	XP_016867685.1:n.2416-44_2416-43insT
NM_000238.4:c.2593-44_2593-43insT MANE Select	NP_000229.1:n.2593-44_2593-43insT
NM_172057.3:c.1573-44_1573-43insT	NP_742054.1:n.1573-44_1573-43insT