Canonical Allele Identifier: CA369859747

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649629C>G (hg19) ; chr7:g.150952541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952541C>G , CM000669.2:g.150952541C>G	GRCh38
NC_000007.13:g.150649629C>G , CM000669.1:g.150649629C>G	GRCh37
NC_000007.12:g.150280562C>G	NCBI36
NG_008916.1:g.30386G>C , LRG_288:g.30386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.739G>C
ENST00000684116.1:n.334G>C
ENST00000684241.1:n.2274G>C
ENST00000262186.10:c.1441G>C MANE Select	ENSP00000262186.5:p.Glu481Gln
ENST00000330883.9:c.421G>C	ENSP00000328531.4:p.Glu141Gln
ENST00000262186.9:c.1441G>C	ENSP00000262186.5:p.Glu481Gln
ENST00000330883.8:c.421G>C	ENSP00000328531.4:p.Glu141Gln
ENST00000430723.4:c.1093G>C	ENSP00000387657.4:p.Glu365Gln
ENST00000461280.1:n.728G>C
ENST00000473610.5:n.746G>C
ENST00000532957.5:n.1664G>C
NM_000238.3:c.1441G>C , LRG_288t1:c.1441G>C	NP_000229.1:p.Glu481Gln
NM_001204798.1:c.421G>C	NP_001191727.1:p.Glu141Gln
NM_172056.2:c.1441G>C , LRG_288t2:c.1441G>C	NP_742053.1:p.Glu481Gln
NM_172057.2:c.421G>C , LRG_288t3:c.421G>C	NP_742054.1:p.Glu141Gln
XM_011516185.1:c.1141G>C	XP_011514487.1:p.Glu381Gln
XM_011516186.1:c.1441G>C	XP_011514488.1:p.Glu481Gln
XM_011516185.2:c.1141G>C	XP_011514487.1:p.Glu381Gln
XM_011516186.3:c.1441G>C	XP_011514488.1:p.Glu481Gln
XM_017012195.1:c.1291G>C	XP_016867684.1:p.Glu431Gln
XM_017012196.1:c.1264G>C	XP_016867685.1:p.Glu422Gln
NM_000238.4:c.1441G>C MANE Select	NP_000229.1:p.Glu481Gln
NM_001204798.2:c.421G>C	NP_001191727.1:p.Glu141Gln
NM_172057.3:c.421G>C	NP_742054.1:p.Glu141Gln