Canonical Allele Identifier: CA1752429319

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947435G= , CM000669.2:g.150947435G=	GRCh38
NC_000007.13:g.150644523G= , CM000669.1:g.150644523G=	GRCh37
NC_000007.12:g.150275456G=	NCBI36
NG_008916.1:g.35492C= , LRG_288:g.35492C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3878C=
ENST00000262186.10:c.3045C= MANE Select	ENSP00000262186.5:p.Cys1015=
ENST00000330883.9:c.2025C=	ENSP00000328531.4:p.Cys675=
ENST00000262186.9:c.3045C=	ENSP00000262186.5:p.Cys1015=
ENST00000330883.8:c.2025C=	ENSP00000328531.4:p.Cys675=
NM_000238.3:c.3045C= , LRG_288t1:c.3045C=	NP_000229.1:p.Cys1015=
NM_172057.2:c.2025C= , LRG_288t3:c.2025C=	NP_742054.1:p.Cys675=
XM_011516185.1:c.2745C=	XP_011514487.1:p.Cys915=
XM_011516186.1:c.*125C=	XP_011514488.1:n.*125C=
XM_011516185.2:c.2745C=	XP_011514487.1:p.Cys915=
XM_011516186.3:c.*125C=	XP_011514488.1:n.*125C=
XM_017012195.1:c.2895C=	XP_016867684.1:p.Cys965=
XM_017012196.1:c.2868C=	XP_016867685.1:p.Cys956=
NM_000238.4:c.3045C= MANE Select	NP_000229.1:p.Cys1015=
NM_172057.3:c.2025C=	NP_742054.1:p.Cys675=