Canonical Allele Identifier: CA1752418400

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958318G= , CM000669.2:g.150958318G=	GRCh38
NC_000007.13:g.150655406G= , CM000669.1:g.150655406G=	GRCh37
NC_000007.12:g.150286339G=	NCBI36
NG_008916.1:g.24609C= , LRG_288:g.24609C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1490C=
ENST00000262186.10:c.657C= MANE Select	ENSP00000262186.5:p.Asp219=
ENST00000262186.9:c.657C=	ENSP00000262186.5:p.Asp219=
ENST00000430723.4:c.309C=	ENSP00000387657.4:p.Asp103=
ENST00000532957.5:n.880C=
NM_000238.3:c.657C= , LRG_288t1:c.657C=	NP_000229.1:p.Asp219=
NM_172056.2:c.657C= , LRG_288t2:c.657C=	NP_742053.1:p.Asp219=
XM_011516185.1:c.357C=	XP_011514487.1:p.Asp119=
XM_011516186.1:c.657C=	XP_011514488.1:p.Asp219=
XM_011516185.2:c.357C=	XP_011514487.1:p.Asp119=
XM_011516186.3:c.657C=	XP_011514488.1:p.Asp219=
XM_017012195.1:c.507C=	XP_016867684.1:p.Asp169=
XM_017012196.1:c.480C=	XP_016867685.1:p.Asp160=
NM_000238.4:c.657C= MANE Select	NP_000229.1:p.Asp219=