Canonical Allele Identifier: CA2685600760

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150949068-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949068A>T , CM000669.2:g.150949068A>T	GRCh38
NC_000007.13:g.150646156A>T , CM000669.1:g.150646156A>T	GRCh37
NC_000007.12:g.150277089A>T	NCBI36
NG_008916.1:g.33859T>A , LRG_288:g.33859T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3232-19T>A
ENST00000262186.10:c.2399-19T>A MANE Select	ENSP00000262186.5:n.2399-19T>A
ENST00000330883.9:c.1379-19T>A	ENSP00000328531.4:n.1379-19T>A
ENST00000262186.9:c.2399-19T>A	ENSP00000262186.5:n.2399-19T>A
ENST00000330883.8:c.1379-19T>A	ENSP00000328531.4:n.1379-19T>A
NM_000238.3:c.2399-19T>A , LRG_288t1:c.2399-19T>A	NP_000229.1:n.2399-19T>A
NM_172057.2:c.1379-19T>A , LRG_288t3:c.1379-19T>A	NP_742054.1:n.1379-19T>A
XM_011516185.1:c.2099-19T>A	XP_011514487.1:n.2099-19T>A
XM_011516186.1:c.2399-19T>A	XP_011514488.1:n.2399-19T>A
XM_011516185.2:c.2099-19T>A	XP_011514487.1:n.2099-19T>A
XM_011516186.3:c.2399-19T>A	XP_011514488.1:n.2399-19T>A
XM_017012195.1:c.2249-19T>A	XP_016867684.1:n.2249-19T>A
XM_017012196.1:c.2222-19T>A	XP_016867685.1:n.2222-19T>A
NM_000238.4:c.2399-19T>A MANE Select	NP_000229.1:n.2399-19T>A
NM_172057.3:c.1379-19T>A	NP_742054.1:n.1379-19T>A