Canonical Allele Identifier: CA1752418142

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958226G= , CM000669.2:g.150958226G=	GRCh38
NC_000007.13:g.150655314G= , CM000669.1:g.150655314G=	GRCh37
NC_000007.12:g.150286247G=	NCBI36
NG_008916.1:g.24701C= , LRG_288:g.24701C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1582C=
ENST00000262186.10:c.749C= MANE Select	ENSP00000262186.5:p.Ser250=
ENST00000262186.9:c.749C=	ENSP00000262186.5:p.Ser250=
ENST00000430723.4:c.401C=	ENSP00000387657.4:p.Ser134=
ENST00000532957.5:n.972C=
NM_000238.3:c.749C= , LRG_288t1:c.749C=	NP_000229.1:p.Ser250=
NM_172056.2:c.749C= , LRG_288t2:c.749C=	NP_742053.1:p.Ser250=
XM_011516185.1:c.449C=	XP_011514487.1:p.Ser150=
XM_011516186.1:c.749C=	XP_011514488.1:p.Ser250=
XM_011516185.2:c.449C=	XP_011514487.1:p.Ser150=
XM_011516186.3:c.749C=	XP_011514488.1:p.Ser250=
XM_017012195.1:c.599C=	XP_016867684.1:p.Ser200=
XM_017012196.1:c.572C=	XP_016867685.1:p.Ser191=
NM_000238.4:c.749C= MANE Select	NP_000229.1:p.Ser250=