Canonical Allele Identifier: CA1752418432

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958328G= , CM000669.2:g.150958328G=	GRCh38
NC_000007.13:g.150655416G= , CM000669.1:g.150655416G=	GRCh37
NC_000007.12:g.150286349G=	NCBI36
NG_008916.1:g.24599C= , LRG_288:g.24599C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1480C=
ENST00000262186.10:c.647C= MANE Select	ENSP00000262186.5:p.Thr216=
ENST00000262186.9:c.647C=	ENSP00000262186.5:p.Thr216=
ENST00000430723.4:c.299C=	ENSP00000387657.4:p.Thr100=
ENST00000532957.5:n.870C=
NM_000238.3:c.647C= , LRG_288t1:c.647C=	NP_000229.1:p.Thr216=
NM_172056.2:c.647C= , LRG_288t2:c.647C=	NP_742053.1:p.Thr216=
XM_011516185.1:c.347C=	XP_011514487.1:p.Thr116=
XM_011516186.1:c.647C=	XP_011514488.1:p.Thr216=
XM_011516185.2:c.347C=	XP_011514487.1:p.Thr116=
XM_011516186.3:c.647C=	XP_011514488.1:p.Thr216=
XM_017012195.1:c.497C=	XP_016867684.1:p.Thr166=
XM_017012196.1:c.470C=	XP_016867685.1:p.Thr157=
NM_000238.4:c.647C= MANE Select	NP_000229.1:p.Thr216=