Canonical Allele Identifier: CA1752418320

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958285C= , CM000669.2:g.150958285C=	GRCh38
NC_000007.13:g.150655373C= , CM000669.1:g.150655373C=	GRCh37
NC_000007.12:g.150286306C=	NCBI36
NG_008916.1:g.24642G= , LRG_288:g.24642G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1523G=
ENST00000262186.10:c.690G= MANE Select	ENSP00000262186.5:p.Glu230=
ENST00000262186.9:c.690G=	ENSP00000262186.5:p.Glu230=
ENST00000430723.4:c.342G=	ENSP00000387657.4:p.Glu114=
ENST00000532957.5:n.913G=
NM_000238.3:c.690G= , LRG_288t1:c.690G=	NP_000229.1:p.Glu230=
NM_172056.2:c.690G= , LRG_288t2:c.690G=	NP_742053.1:p.Glu230=
XM_011516185.1:c.390G=	XP_011514487.1:p.Glu130=
XM_011516186.1:c.690G=	XP_011514488.1:p.Glu230=
XM_011516185.2:c.390G=	XP_011514487.1:p.Glu130=
XM_011516186.3:c.690G=	XP_011514488.1:p.Glu230=
XM_017012195.1:c.540G=	XP_016867684.1:p.Glu180=
XM_017012196.1:c.513G=	XP_016867685.1:p.Glu171=
NM_000238.4:c.690G= MANE Select	NP_000229.1:p.Glu230=