Canonical Allele Identifier: CA369856027

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647283G>C (hg19) ; chr7:g.150950195G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950195G>C , CM000669.2:g.150950195G>C	GRCh38
NC_000007.13:g.150647283G>C , CM000669.1:g.150647283G>C	GRCh37
NC_000007.12:g.150278216G>C	NCBI36
NG_008916.1:g.32732C>G , LRG_288:g.32732C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1669C>G
ENST00000684241.1:n.3204C>G
ENST00000262186.10:c.2371C>G MANE Select	ENSP00000262186.5:p.Arg791Gly
ENST00000330883.9:c.1351C>G	ENSP00000328531.4:p.Arg451Gly
ENST00000262186.9:c.2371C>G	ENSP00000262186.5:p.Arg791Gly
ENST00000330883.8:c.1351C>G	ENSP00000328531.4:p.Arg451Gly
ENST00000430723.4:c.2023C>G	ENSP00000387657.4:p.Arg675Gly
ENST00000461280.1:n.1658C>G
ENST00000473610.5:n.2003C>G
ENST00000532957.5:n.2594C>G
NM_000238.3:c.2371C>G , LRG_288t1:c.2371C>G	NP_000229.1:p.Arg791Gly
NM_001204798.1:c.1351C>G	NP_001191727.1:p.Arg451Gly
NM_172056.2:c.2371C>G , LRG_288t2:c.2371C>G	NP_742053.1:p.Arg791Gly
NM_172057.2:c.1351C>G , LRG_288t3:c.1351C>G	NP_742054.1:p.Arg451Gly
XM_011516185.1:c.2071C>G	XP_011514487.1:p.Arg691Gly
XM_011516186.1:c.2371C>G	XP_011514488.1:p.Arg791Gly
XM_011516185.2:c.2071C>G	XP_011514487.1:p.Arg691Gly
XM_011516186.3:c.2371C>G	XP_011514488.1:p.Arg791Gly
XM_017012195.1:c.2221C>G	XP_016867684.1:p.Arg741Gly
XM_017012196.1:c.2194C>G	XP_016867685.1:p.Arg732Gly
NM_000238.4:c.2371C>G MANE Select	NP_000229.1:p.Arg791Gly
NM_001204798.2:c.1351C>G	NP_001191727.1:p.Arg451Gly
NM_172057.3:c.1351C>G	NP_742054.1:p.Arg451Gly