Canonical Allele Identifier: CA458646004

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654478G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957390G>T , CM000669.2:g.150957390G>T	GRCh38
NC_000007.13:g.150654478G>T , CM000669.1:g.150654478G>T	GRCh37
NC_000007.12:g.150285411G>T	NCBI36
NG_008916.1:g.25537C>A , LRG_288:g.25537C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1862C>A
ENST00000262186.10:c.1029C>A MANE Select	ENSP00000262186.5:p.Leu343=
ENST00000262186.9:c.1029C>A	ENSP00000262186.5:p.Leu343=
ENST00000430723.4:c.681C>A	ENSP00000387657.4:p.Leu227=
ENST00000532957.5:n.1252C>A
NM_000238.3:c.1029C>A , LRG_288t1:c.1029C>A	NP_000229.1:p.Leu343=
NM_172056.2:c.1029C>A , LRG_288t2:c.1029C>A	NP_742053.1:p.Leu343=
XM_011516185.1:c.729C>A	XP_011514487.1:p.Leu243=
XM_011516186.1:c.1029C>A	XP_011514488.1:p.Leu343=
XM_011516185.2:c.729C>A	XP_011514487.1:p.Leu243=
XM_011516186.3:c.1029C>A	XP_011514488.1:p.Leu343=
XM_017012195.1:c.879C>A	XP_016867684.1:p.Leu293=
XM_017012196.1:c.852C>A	XP_016867685.1:p.Leu284=
NM_000238.4:c.1029C>A MANE Select	NP_000229.1:p.Leu343=