Canonical Allele Identifier: CA458645724

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649846G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952758G>C , CM000669.2:g.150952758G>C	GRCh38
NC_000007.13:g.150649846G>C , CM000669.1:g.150649846G>C	GRCh37
NC_000007.12:g.150280779G>C	NCBI36
NG_008916.1:g.30169C>G , LRG_288:g.30169C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.522C>G
ENST00000684116.1:n.117C>G
ENST00000684241.1:n.2057C>G
ENST00000262186.10:c.1224C>G MANE Select	ENSP00000262186.5:p.Ala408=
ENST00000330883.9:c.204C>G	ENSP00000328531.4:p.Ala68=
ENST00000262186.9:c.1224C>G	ENSP00000262186.5:p.Ala408=
ENST00000330883.8:c.204C>G	ENSP00000328531.4:p.Ala68=
ENST00000430723.4:c.876C>G	ENSP00000387657.4:p.Ala292=
ENST00000461280.1:n.511C>G
ENST00000473610.5:n.529C>G
ENST00000532957.5:n.1447C>G
NM_000238.3:c.1224C>G , LRG_288t1:c.1224C>G	NP_000229.1:p.Ala408=
NM_001204798.1:c.204C>G	NP_001191727.1:p.Ala68=
NM_172056.2:c.1224C>G , LRG_288t2:c.1224C>G	NP_742053.1:p.Ala408=
NM_172057.2:c.204C>G , LRG_288t3:c.204C>G	NP_742054.1:p.Ala68=
XM_011516185.1:c.924C>G	XP_011514487.1:p.Ala308=
XM_011516186.1:c.1224C>G	XP_011514488.1:p.Ala408=
XM_011516185.2:c.924C>G	XP_011514487.1:p.Ala308=
XM_011516186.3:c.1224C>G	XP_011514488.1:p.Ala408=
XM_017012195.1:c.1074C>G	XP_016867684.1:p.Ala358=
XM_017012196.1:c.1047C>G	XP_016867685.1:p.Ala349=
NM_000238.4:c.1224C>G MANE Select	NP_000229.1:p.Ala408=
NM_001204798.2:c.204C>G	NP_001191727.1:p.Ala68=
NM_172057.3:c.204C>G	NP_742054.1:p.Ala68=