Canonical Allele Identifier: CA458871216

Gene: KCNH2

Identifiers and link-outs to other resources

• MyVariant Identifiers: chr7:g.150647308G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950220G>A , CM000669.2:g.150950220G>A	GRCh38
NC_000007.13:g.150647308G>A , CM000669.1:g.150647308G>A	GRCh37
NC_000007.12:g.150278241G>A	NCBI36
NG_008916.1:g.32707C>T , LRG_288:g.32707C>T

Transcript Alleles

HGVS	Amino-acid change
NM_000238.3:c.2346C>T , LRG_288t1:c.2346C>T	NP_000229.1:p.Ile782=
NM_001204798.1:c.1326C>T VV	NP_001191727.1:p.Ile442=
NM_172056.2:c.2346C>T , LRG_288t2:c.2346C>T	NP_742053.1:p.Ile782=
NM_172057.2:c.1326C>T , LRG_288t3:c.1326C>T	NP_742054.1:p.Ile442=
XM_011516185.1:c.2046C>T	XP_011514487.1:p.Ile682=
XM_011516186.1:c.2346C>T	XP_011514488.1:p.Ile782=
XM_011516185.2:c.2046C>T	XP_011514487.1:p.Ile682=
XM_011516186.3:c.2346C>T	XP_011514488.1:p.Ile782=
XM_017012195.1:c.2196C>T	XP_016867684.1:p.Ile732=
XM_017012196.1:c.2169C>T	XP_016867685.1:p.Ile723=
NM_000238.4:c.2346C>T VV MANE Preferred	NP_000229.1:p.Ile782=
NM_001204798.2:c.1326C>T VV	NP_001191727.1:p.Ile442=
ENST00000262186.9:c.2346C>T	ENSP00000262186.5:p.Ile782=
ENST00000330883.8:c.1326C>T	ENSP00000328531.4:p.Ile442=
ENST00000430723.4:c.1998C>T	ENSP00000387657.4:p.Ile666=
ENST00000461280.1:n.1633C>T
ENST00000473610.5:n.1978C>T
ENST00000532957.5:n.2569C>T