Canonical Allele Identifier: CA458646019

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654493G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957405G>T , CM000669.2:g.150957405G>T	GRCh38
NC_000007.13:g.150654493G>T , CM000669.1:g.150654493G>T	GRCh37
NC_000007.12:g.150285426G>T	NCBI36
NG_008916.1:g.25522C>A , LRG_288:g.25522C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1847C>A
ENST00000262186.10:c.1014C>A MANE Select	ENSP00000262186.5:p.Leu338=
ENST00000262186.9:c.1014C>A	ENSP00000262186.5:p.Leu338=
ENST00000430723.4:c.666C>A	ENSP00000387657.4:p.Leu222=
ENST00000532957.5:n.1237C>A
NM_000238.3:c.1014C>A , LRG_288t1:c.1014C>A	NP_000229.1:p.Leu338=
NM_172056.2:c.1014C>A , LRG_288t2:c.1014C>A	NP_742053.1:p.Leu338=
XM_011516185.1:c.714C>A	XP_011514487.1:p.Leu238=
XM_011516186.1:c.1014C>A	XP_011514488.1:p.Leu338=
XM_011516185.2:c.714C>A	XP_011514487.1:p.Leu238=
XM_011516186.3:c.1014C>A	XP_011514488.1:p.Leu338=
XM_017012195.1:c.864C>A	XP_016867684.1:p.Leu288=
XM_017012196.1:c.837C>A	XP_016867685.1:p.Leu279=
NM_000238.4:c.1014C>A MANE Select	NP_000229.1:p.Leu338=