Canonical Allele Identifier: CA1752417895

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958126C= , CM000669.2:g.150958126C=	GRCh38
NC_000007.13:g.150655214C= , CM000669.1:g.150655214C=	GRCh37
NC_000007.12:g.150286147C=	NCBI36
NG_008916.1:g.24801G= , LRG_288:g.24801G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1682G=
ENST00000262186.10:c.849G= MANE Select	ENSP00000262186.5:p.Ser283=
ENST00000262186.9:c.849G=	ENSP00000262186.5:p.Ser283=
ENST00000430723.4:c.501G=	ENSP00000387657.4:p.Ser167=
ENST00000532957.5:n.1072G=
NM_000238.3:c.849G= , LRG_288t1:c.849G=	NP_000229.1:p.Ser283=
NM_172056.2:c.849G= , LRG_288t2:c.849G=	NP_742053.1:p.Ser283=
XM_011516185.1:c.549G=	XP_011514487.1:p.Ser183=
XM_011516186.1:c.849G=	XP_011514488.1:p.Ser283=
XM_011516185.2:c.549G=	XP_011514487.1:p.Ser183=
XM_011516186.3:c.849G=	XP_011514488.1:p.Ser283=
XM_017012195.1:c.699G=	XP_016867684.1:p.Ser233=
XM_017012196.1:c.672G=	XP_016867685.1:p.Ser224=
NM_000238.4:c.849G= MANE Select	NP_000229.1:p.Ser283=