Canonical Allele Identifier: CA2579063081

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974658-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974658C>T , CM000669.2:g.150974658C>T	GRCh38
NC_000007.13:g.150671746C>T , CM000669.1:g.150671746C>T	GRCh37
NC_000007.12:g.150302679C>T	NCBI36
NG_008916.1:g.8269G>A , LRG_288:g.8269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+53G>A MANE Select	ENSP00000262186.5:n.307+53G>A
ENST00000262186.9:c.307+53G>A	ENSP00000262186.5:n.307+53G>A
ENST00000430723.4:c.130+53G>A	ENSP00000387657.4:n.130+53G>A
ENST00000532957.5:n.530+53G>A
NM_000238.3:c.307+53G>A , LRG_288t1:c.307+53G>A	NP_000229.1:n.307+53G>A
NM_172056.2:c.307+53G>A , LRG_288t2:c.307+53G>A	NP_742053.1:n.307+53G>A
XM_011516186.1:c.307+53G>A	XP_011514488.1:n.307+53G>A
XM_011516186.3:c.307+53G>A	XP_011514488.1:n.307+53G>A
XM_017012196.1:c.130+53G>A	XP_016867685.1:n.130+53G>A
NM_000238.4:c.307+53G>A MANE Select	NP_000229.1:n.307+53G>A