Canonical Allele Identifier: CA458871619

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649606G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952518G>C , CM000669.2:g.150952518G>C	GRCh38
NC_000007.13:g.150649606G>C , CM000669.1:g.150649606G>C	GRCh37
NC_000007.12:g.150280539G>C	NCBI36
NG_008916.1:g.30409C>G , LRG_288:g.30409C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.762C>G
ENST00000684116.1:n.357C>G
ENST00000684241.1:n.2297C>G
ENST00000262186.10:c.1464C>G MANE Select	ENSP00000262186.5:p.Arg488=
ENST00000330883.9:c.444C>G	ENSP00000328531.4:p.Arg148=
ENST00000262186.9:c.1464C>G	ENSP00000262186.5:p.Arg488=
ENST00000330883.8:c.444C>G	ENSP00000328531.4:p.Arg148=
ENST00000430723.4:c.1116C>G	ENSP00000387657.4:p.Arg372=
ENST00000461280.1:n.751C>G
ENST00000473610.5:n.769C>G
ENST00000532957.5:n.1687C>G
NM_000238.3:c.1464C>G , LRG_288t1:c.1464C>G	NP_000229.1:p.Arg488=
NM_001204798.1:c.444C>G	NP_001191727.1:p.Arg148=
NM_172056.2:c.1464C>G , LRG_288t2:c.1464C>G	NP_742053.1:p.Arg488=
NM_172057.2:c.444C>G , LRG_288t3:c.444C>G	NP_742054.1:p.Arg148=
XM_011516185.1:c.1164C>G	XP_011514487.1:p.Arg388=
XM_011516186.1:c.1464C>G	XP_011514488.1:p.Arg488=
XM_011516185.2:c.1164C>G	XP_011514487.1:p.Arg388=
XM_011516186.3:c.1464C>G	XP_011514488.1:p.Arg488=
XM_017012195.1:c.1314C>G	XP_016867684.1:p.Arg438=
XM_017012196.1:c.1287C>G	XP_016867685.1:p.Arg429=
NM_000238.4:c.1464C>G MANE Select	NP_000229.1:p.Arg488=
NM_001204798.2:c.444C>G	NP_001191727.1:p.Arg148=
NM_172057.3:c.444C>G	NP_742054.1:p.Arg148=