Canonical Allele Identifier: CA2685605365

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957283-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957283G>A , CM000669.2:g.150957283G>A	GRCh38
NC_000007.13:g.150654371G>A , CM000669.1:g.150654371G>A	GRCh37
NC_000007.12:g.150285304G>A	NCBI36
NG_008916.1:g.25644C>T , LRG_288:g.25644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1961+8C>T
ENST00000262186.10:c.1128+8C>T MANE Select	ENSP00000262186.5:n.1128+8C>T
ENST00000262186.9:c.1128+8C>T	ENSP00000262186.5:n.1128+8C>T
ENST00000430723.4:c.780+8C>T	ENSP00000387657.4:n.780+8C>T
ENST00000532957.5:n.1351+8C>T
NM_000238.3:c.1128+8C>T , LRG_288t1:c.1128+8C>T	NP_000229.1:n.1128+8C>T
NM_172056.2:c.1128+8C>T , LRG_288t2:c.1128+8C>T	NP_742053.1:n.1128+8C>T
XM_011516185.1:c.828+8C>T	XP_011514487.1:n.828+8C>T
XM_011516186.1:c.1128+8C>T	XP_011514488.1:n.1128+8C>T
XM_011516185.2:c.828+8C>T	XP_011514487.1:n.828+8C>T
XM_011516186.3:c.1128+8C>T	XP_011514488.1:n.1128+8C>T
XM_017012195.1:c.978+8C>T	XP_016867684.1:n.978+8C>T
XM_017012196.1:c.951+8C>T	XP_016867685.1:n.951+8C>T
NM_000238.4:c.1128+8C>T MANE Select	NP_000229.1:n.1128+8C>T