Canonical Allele Identifier: CA1752416821

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957431T= , CM000669.2:g.150957431T=	GRCh38
NC_000007.13:g.150654519T= , CM000669.1:g.150654519T=	GRCh37
NC_000007.12:g.150285452T=	NCBI36
NG_008916.1:g.25496A= , LRG_288:g.25496A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1821A=
ENST00000262186.10:c.988A= MANE Select	ENSP00000262186.5:p.Ile330=
ENST00000262186.9:c.988A=	ENSP00000262186.5:p.Ile330=
ENST00000430723.4:c.640A=	ENSP00000387657.4:p.Ile214=
ENST00000532957.5:n.1211A=
NM_000238.3:c.988A= , LRG_288t1:c.988A=	NP_000229.1:p.Ile330=
NM_172056.2:c.988A= , LRG_288t2:c.988A=	NP_742053.1:p.Ile330=
XM_011516185.1:c.688A=	XP_011514487.1:p.Ile230=
XM_011516186.1:c.988A=	XP_011514488.1:p.Ile330=
XM_011516185.2:c.688A=	XP_011514487.1:p.Ile230=
XM_011516186.3:c.988A=	XP_011514488.1:p.Ile330=
XM_017012195.1:c.838A=	XP_016867684.1:p.Ile280=
XM_017012196.1:c.811A=	XP_016867685.1:p.Ile271=
NM_000238.4:c.988A= MANE Select	NP_000229.1:p.Ile330=