Canonical Allele Identifier: CA2685600621

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948645-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948645_150948646insG , CM000669.2:g.150948645_150948646insG	GRCh38
NC_000007.13:g.150645733_150645734insG , CM000669.1:g.150645733_150645734insG	GRCh37
NC_000007.12:g.150276666_150276667insG	NCBI36
NG_008916.1:g.34281_34282insC , LRG_288:g.34281_34282insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-103_3426-102insC
ENST00000262186.10:c.2593-103_2593-102insC MANE Select	ENSP00000262186.5:n.2593-103_2593-102insC
ENST00000330883.9:c.1573-103_1573-102insC	ENSP00000328531.4:n.1573-103_1573-102insC
ENST00000262186.9:c.2593-103_2593-102insC	ENSP00000262186.5:n.2593-103_2593-102insC
ENST00000330883.8:c.1573-103_1573-102insC	ENSP00000328531.4:n.1573-103_1573-102insC
NM_000238.3:c.2593-103_2593-102insC , LRG_288t1:c.2593-103_2593-102insC	NP_000229.1:n.2593-103_2593-102insC
NM_172057.2:c.1573-103_1573-102insC , LRG_288t3:c.1573-103_1573-102insC	NP_742054.1:n.1573-103_1573-102insC
XM_011516185.1:c.2293-103_2293-102insC	XP_011514487.1:n.2293-103_2293-102insC
XM_011516186.1:c.2593-103_2593-102insC	XP_011514488.1:n.2593-103_2593-102insC
XM_011516185.2:c.2293-103_2293-102insC	XP_011514487.1:n.2293-103_2293-102insC
XM_011516186.3:c.2593-103_2593-102insC	XP_011514488.1:n.2593-103_2593-102insC
XM_017012195.1:c.2443-103_2443-102insC	XP_016867684.1:n.2443-103_2443-102insC
XM_017012196.1:c.2416-103_2416-102insC	XP_016867685.1:n.2416-103_2416-102insC
NM_000238.4:c.2593-103_2593-102insC MANE Select	NP_000229.1:n.2593-103_2593-102insC
NM_172057.3:c.1573-103_1573-102insC	NP_742054.1:n.1573-103_1573-102insC