Canonical Allele Identifier: CA1752418790

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958484C= , CM000669.2:g.150958484C=	GRCh38
NC_000007.13:g.150655572C= , CM000669.1:g.150655572C=	GRCh37
NC_000007.12:g.150286505C=	NCBI36
NG_008916.1:g.24443G= , LRG_288:g.24443G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.491G= MANE Select	NP_000229.1:p.Arg164=
ENST00000262186.10:c.491G= MANE Select	ENSP00000262186.5:p.Arg164=
NM_000238.3:c.491G= , LRG_288t1:c.491G=	NP_000229.1:p.Arg164=
NM_172056.2:c.491G= , LRG_288t2:c.491G=	NP_742053.1:p.Arg164=
ENST00000262186.9:c.491G=	ENSP00000262186.5:p.Arg164=
ENST00000430723.4:c.235-92G=	ENSP00000387657.4:n.235-92G=
ENST00000532957.5:n.714G=
ENST00000684241.1:n.1324G=
XM_011516185.1:c.191G=	XP_011514487.1:p.Arg64=
XM_011516185.2:c.191G=	XP_011514487.1:p.Arg64=
XM_011516186.1:c.491G=	XP_011514488.1:p.Arg164=
XM_011516186.3:c.491G=	XP_011514488.1:p.Arg164=
XM_017012195.1:c.341G=	XP_016867684.1:p.Arg114=
XM_017012196.1:c.314G=	XP_016867685.1:p.Arg105=