Canonical Allele Identifier: CA2685607040

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958052-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958052C>A , CM000669.2:g.150958052C>A	GRCh38
NC_000007.13:g.150655140C>A , CM000669.1:g.150655140C>A	GRCh37
NC_000007.12:g.150286073C>A	NCBI36
NG_008916.1:g.24875G>T , LRG_288:g.24875G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1749+7G>T
ENST00000262186.10:c.916+7G>T MANE Select	ENSP00000262186.5:n.916+7G>T
ENST00000262186.9:c.916+7G>T	ENSP00000262186.5:n.916+7G>T
ENST00000430723.4:c.568+7G>T	ENSP00000387657.4:n.568+7G>T
ENST00000532957.5:n.1139+7G>T
NM_000238.3:c.916+7G>T , LRG_288t1:c.916+7G>T	NP_000229.1:n.916+7G>T
NM_172056.2:c.916+7G>T , LRG_288t2:c.916+7G>T	NP_742053.1:n.916+7G>T
XM_011516185.1:c.616+7G>T	XP_011514487.1:n.616+7G>T
XM_011516186.1:c.916+7G>T	XP_011514488.1:n.916+7G>T
XM_011516185.2:c.616+7G>T	XP_011514487.1:n.616+7G>T
XM_011516186.3:c.916+7G>T	XP_011514488.1:n.916+7G>T
XM_017012195.1:c.766+7G>T	XP_016867684.1:n.766+7G>T
XM_017012196.1:c.739+7G>T	XP_016867685.1:n.739+7G>T
NM_000238.4:c.916+7G>T MANE Select	NP_000229.1:n.916+7G>T