Canonical Allele Identifier: CA1752417126

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957550C= , CM000669.2:g.150957550C=	GRCh38
NC_000007.13:g.150654638C= , CM000669.1:g.150654638C=	GRCh37
NC_000007.12:g.150285571C=	NCBI36
NG_008916.1:g.25377G= , LRG_288:g.25377G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-48G=
ENST00000262186.10:c.917-48G= MANE Select	ENSP00000262186.5:n.917-48G=
ENST00000262186.9:c.917-48G=	ENSP00000262186.5:n.917-48G=
ENST00000430723.4:c.569-48G=	ENSP00000387657.4:n.569-48G=
ENST00000532957.5:n.1140-48G=
NM_000238.3:c.917-48G= , LRG_288t1:c.917-48G=	NP_000229.1:n.917-48G=
NM_172056.2:c.917-48G= , LRG_288t2:c.917-48G=	NP_742053.1:n.917-48G=
XM_011516185.1:c.617-48G=	XP_011514487.1:n.617-48G=
XM_011516186.1:c.917-48G=	XP_011514488.1:n.917-48G=
XM_011516185.2:c.617-48G=	XP_011514487.1:n.617-48G=
XM_011516186.3:c.917-48G=	XP_011514488.1:n.917-48G=
XM_017012195.1:c.767-48G=	XP_016867684.1:n.767-48G=
XM_017012196.1:c.740-48G=	XP_016867685.1:n.740-48G=
NM_000238.4:c.917-48G= MANE Select	NP_000229.1:n.917-48G=