Canonical Allele Identifier: CA1752419729

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959519C= , CM000669.2:g.150959519C=	GRCh38
NC_000007.13:g.150656607C= , CM000669.1:g.150656607C=	GRCh37
NC_000007.12:g.150287540C=	NCBI36
NG_008916.1:g.23408G= , LRG_288:g.23408G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+53G=
ENST00000262186.10:c.472+53G= MANE Select	ENSP00000262186.5:n.472+53G=
ENST00000262186.9:c.472+53G=	ENSP00000262186.5:n.472+53G=
ENST00000430723.4:c.234+114G=	ENSP00000387657.4:n.234+114G=
ENST00000532957.5:n.695+53G=
NM_000238.3:c.472+53G= , LRG_288t1:c.472+53G=	NP_000229.1:n.472+53G=
NM_172056.2:c.472+53G= , LRG_288t2:c.472+53G=	NP_742053.1:n.472+53G=
XM_011516185.1:c.172+53G=	XP_011514487.1:n.172+53G=
XM_011516186.1:c.472+53G=	XP_011514488.1:n.472+53G=
XM_011516185.2:c.172+53G=	XP_011514487.1:n.172+53G=
XM_011516186.3:c.472+53G=	XP_011514488.1:n.472+53G=
XM_017012195.1:c.322+53G=	XP_016867684.1:n.322+53G=
XM_017012196.1:c.295+53G=	XP_016867685.1:n.295+53G=
NM_000238.4:c.472+53G= MANE Select	NP_000229.1:n.472+53G=