Canonical Allele Identifier: CA1752418341

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958293C= , CM000669.2:g.150958293C=	GRCh38
NC_000007.13:g.150655381C= , CM000669.1:g.150655381C=	GRCh37
NC_000007.12:g.150286314C=	NCBI36
NG_008916.1:g.24634G= , LRG_288:g.24634G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1515G=
ENST00000262186.10:c.682G= MANE Select	ENSP00000262186.5:p.Ala228=
ENST00000262186.9:c.682G=	ENSP00000262186.5:p.Ala228=
ENST00000430723.4:c.334G=	ENSP00000387657.4:p.Ala112=
ENST00000532957.5:n.905G=
NM_000238.3:c.682G= , LRG_288t1:c.682G=	NP_000229.1:p.Ala228=
NM_172056.2:c.682G= , LRG_288t2:c.682G=	NP_742053.1:p.Ala228=
XM_011516185.1:c.382G=	XP_011514487.1:p.Ala128=
XM_011516186.1:c.682G=	XP_011514488.1:p.Ala228=
XM_011516185.2:c.382G=	XP_011514487.1:p.Ala128=
XM_011516186.3:c.682G=	XP_011514488.1:p.Ala228=
XM_017012195.1:c.532G=	XP_016867684.1:p.Ala178=
XM_017012196.1:c.505G=	XP_016867685.1:p.Ala169=
NM_000238.4:c.682G= MANE Select	NP_000229.1:p.Ala228=