Canonical Allele Identifier: CA458871422

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647466G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950378G>A , CM000669.2:g.150950378G>A	GRCh38
NC_000007.13:g.150647466G>A , CM000669.1:g.150647466G>A	GRCh37
NC_000007.12:g.150278399G>A	NCBI36
NG_008916.1:g.32549C>T , LRG_288:g.32549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1486C>T
ENST00000684241.1:n.3021C>T
ENST00000262186.10:c.2188C>T MANE Select	ENSP00000262186.5:p.Leu730=
ENST00000330883.9:c.1168C>T	ENSP00000328531.4:p.Leu390=
ENST00000262186.9:c.2188C>T	ENSP00000262186.5:p.Leu730=
ENST00000330883.8:c.1168C>T	ENSP00000328531.4:p.Leu390=
ENST00000430723.4:c.1840C>T	ENSP00000387657.4:p.Leu614=
ENST00000461280.1:n.1475C>T
ENST00000473610.5:n.1820C>T
ENST00000532957.5:n.2411C>T
NM_000238.3:c.2188C>T , LRG_288t1:c.2188C>T	NP_000229.1:p.Leu730=
NM_001204798.1:c.1168C>T	NP_001191727.1:p.Leu390=
NM_172056.2:c.2188C>T , LRG_288t2:c.2188C>T	NP_742053.1:p.Leu730=
NM_172057.2:c.1168C>T , LRG_288t3:c.1168C>T	NP_742054.1:p.Leu390=
XM_011516185.1:c.1888C>T	XP_011514487.1:p.Leu630=
XM_011516186.1:c.2188C>T	XP_011514488.1:p.Leu730=
XM_011516185.2:c.1888C>T	XP_011514487.1:p.Leu630=
XM_011516186.3:c.2188C>T	XP_011514488.1:p.Leu730=
XM_017012195.1:c.2038C>T	XP_016867684.1:p.Leu680=
XM_017012196.1:c.2011C>T	XP_016867685.1:p.Leu671=
NM_000238.4:c.2188C>T MANE Select	NP_000229.1:p.Leu730=
NM_001204798.2:c.1168C>T	NP_001191727.1:p.Leu390=
NM_172057.3:c.1168C>T	NP_742054.1:p.Leu390=