Canonical Allele Identifier: CA1752461045

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974415G= , CM000669.2:g.150974415G=	GRCh38
NC_000007.13:g.150671503G= , CM000669.1:g.150671503G=	GRCh37
NC_000007.12:g.150302436G=	NCBI36
NG_008916.1:g.8512C= , LRG_288:g.8512C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+296C= MANE Select	ENSP00000262186.5:n.307+296C=
ENST00000262186.9:c.307+296C=	ENSP00000262186.5:n.307+296C=
ENST00000430723.4:c.130+296C=	ENSP00000387657.4:n.130+296C=
ENST00000532957.5:n.530+296C=
NM_000238.3:c.307+296C= , LRG_288t1:c.307+296C=	NP_000229.1:n.307+296C=
NM_172056.2:c.307+296C= , LRG_288t2:c.307+296C=	NP_742053.1:n.307+296C=
XM_011516186.1:c.307+296C=	XP_011514488.1:n.307+296C=
XM_011516185.2:c.-39C=	XP_011514487.1:n.-39C=
XM_011516186.3:c.307+296C=	XP_011514488.1:n.307+296C=
XM_017012196.1:c.130+296C=	XP_016867685.1:n.130+296C=
NM_000238.4:c.307+296C= MANE Select	NP_000229.1:n.307+296C=