Canonical Allele Identifier: CA1752430099

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947714G= , CM000669.2:g.150947714G=	GRCh38
NC_000007.13:g.150644802G= , CM000669.1:g.150644802G=	GRCh37
NC_000007.12:g.150275735G=	NCBI36
NG_008916.1:g.35213C= , LRG_288:g.35213C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3690C=
ENST00000262186.10:c.2857C= MANE Select	ENSP00000262186.5:p.Leu953=
ENST00000330883.9:c.1837C=	ENSP00000328531.4:p.Leu613=
ENST00000262186.9:c.2857C=	ENSP00000262186.5:p.Leu953=
ENST00000330883.8:c.1837C=	ENSP00000328531.4:p.Leu613=
NM_000238.3:c.2857C= , LRG_288t1:c.2857C=	NP_000229.1:p.Leu953=
NM_172057.2:c.1837C= , LRG_288t3:c.1837C=	NP_742054.1:p.Leu613=
XM_011516185.1:c.2557C=	XP_011514487.1:p.Leu853=
XM_011516186.1:c.2693-23C=	XP_011514488.1:n.2693-23C=
XM_011516185.2:c.2557C=	XP_011514487.1:p.Leu853=
XM_011516186.3:c.2693-23C=	XP_011514488.1:n.2693-23C=
XM_017012195.1:c.2707C=	XP_016867684.1:p.Leu903=
XM_017012196.1:c.2680C=	XP_016867685.1:p.Leu894=
NM_000238.4:c.2857C= MANE Select	NP_000229.1:p.Leu953=
NM_172057.3:c.1837C=	NP_742054.1:p.Leu613=