Canonical Allele Identifier: CA1752429771

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947619G= , CM000669.2:g.150947619G=	GRCh38
NC_000007.13:g.150644707G= , CM000669.1:g.150644707G=	GRCh37
NC_000007.12:g.150275640G=	NCBI36
NG_008916.1:g.35308C= , LRG_288:g.35308C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3785C=
ENST00000262186.10:c.2952C= MANE Select	ENSP00000262186.5:p.Cys984=
ENST00000330883.9:c.1932C=	ENSP00000328531.4:p.Cys644=
ENST00000262186.9:c.2952C=	ENSP00000262186.5:p.Cys984=
ENST00000330883.8:c.1932C=	ENSP00000328531.4:p.Cys644=
NM_000238.3:c.2952C= , LRG_288t1:c.2952C=	NP_000229.1:p.Cys984=
NM_172057.2:c.1932C= , LRG_288t3:c.1932C=	NP_742054.1:p.Cys644=
XM_011516185.1:c.2652C=	XP_011514487.1:p.Cys884=
XM_011516186.1:c.*32C=	XP_011514488.1:n.*32C=
XM_011516185.2:c.2652C=	XP_011514487.1:p.Cys884=
XM_011516186.3:c.*32C=	XP_011514488.1:n.*32C=
XM_017012195.1:c.2802C=	XP_016867684.1:p.Cys934=
XM_017012196.1:c.2775C=	XP_016867685.1:p.Cys925=
NM_000238.4:c.2952C= MANE Select	NP_000229.1:p.Cys984=
NM_172057.3:c.1932C=	NP_742054.1:p.Cys644=