Canonical Allele Identifier: CA1752418173

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958244G= , CM000669.2:g.150958244G=	GRCh38
NC_000007.13:g.150655332G= , CM000669.1:g.150655332G=	GRCh37
NC_000007.12:g.150286265G=	NCBI36
NG_008916.1:g.24683C= , LRG_288:g.24683C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1564C=
ENST00000262186.10:c.731C= MANE Select	ENSP00000262186.5:p.Ala244=
ENST00000262186.9:c.731C=	ENSP00000262186.5:p.Ala244=
ENST00000430723.4:c.383C=	ENSP00000387657.4:p.Ala128=
ENST00000532957.5:n.954C=
NM_000238.3:c.731C= , LRG_288t1:c.731C=	NP_000229.1:p.Ala244=
NM_172056.2:c.731C= , LRG_288t2:c.731C=	NP_742053.1:p.Ala244=
XM_011516185.1:c.431C=	XP_011514487.1:p.Ala144=
XM_011516186.1:c.731C=	XP_011514488.1:p.Ala244=
XM_011516185.2:c.431C=	XP_011514487.1:p.Ala144=
XM_011516186.3:c.731C=	XP_011514488.1:p.Ala244=
XM_017012195.1:c.581C=	XP_016867684.1:p.Ala194=
XM_017012196.1:c.554C=	XP_016867685.1:p.Ala185=
NM_000238.4:c.731C= MANE Select	NP_000229.1:p.Ala244=