Canonical Allele Identifier: CA2685609991

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952387-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952387T>C , CM000669.2:g.150952387T>C	GRCh38
NC_000007.13:g.150649475T>C , CM000669.1:g.150649475T>C	GRCh37
NC_000007.12:g.150280408T>C	NCBI36
NG_008916.1:g.30540A>G , LRG_288:g.30540A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.855+38A>G
ENST00000684116.1:n.450+38A>G
ENST00000684241.1:n.2390+38A>G
ENST00000262186.10:c.1557+38A>G MANE Select	ENSP00000262186.5:n.1557+38A>G
ENST00000330883.9:c.537+38A>G	ENSP00000328531.4:n.537+38A>G
ENST00000262186.9:c.1557+38A>G	ENSP00000262186.5:n.1557+38A>G
ENST00000330883.8:c.537+38A>G	ENSP00000328531.4:n.537+38A>G
ENST00000430723.4:c.1209+38A>G	ENSP00000387657.4:n.1209+38A>G
ENST00000461280.1:n.844+38A>G
ENST00000473610.5:n.862+38A>G
ENST00000532957.5:n.1780+38A>G
NM_000238.3:c.1557+38A>G , LRG_288t1:c.1557+38A>G	NP_000229.1:n.1557+38A>G
NM_001204798.1:c.537+38A>G	NP_001191727.1:n.537+38A>G
NM_172056.2:c.1557+38A>G , LRG_288t2:c.1557+38A>G	NP_742053.1:n.1557+38A>G
NM_172057.2:c.537+38A>G , LRG_288t3:c.537+38A>G	NP_742054.1:n.537+38A>G
XM_011516185.1:c.1257+38A>G	XP_011514487.1:n.1257+38A>G
XM_011516186.1:c.1557+38A>G	XP_011514488.1:n.1557+38A>G
XM_011516185.2:c.1257+38A>G	XP_011514487.1:n.1257+38A>G
XM_011516186.3:c.1557+38A>G	XP_011514488.1:n.1557+38A>G
XM_017012195.1:c.1407+38A>G	XP_016867684.1:n.1407+38A>G
XM_017012196.1:c.1380+38A>G	XP_016867685.1:n.1380+38A>G
NM_000238.4:c.1557+38A>G MANE Select	NP_000229.1:n.1557+38A>G
NM_001204798.2:c.537+38A>G	NP_001191727.1:n.537+38A>G
NM_172057.3:c.537+38A>G	NP_742054.1:n.537+38A>G