Canonical Allele Identifier: CA1752461988

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974761A= , CM000669.2:g.150974761A=	GRCh38
NC_000007.13:g.150671849A= , CM000669.1:g.150671849A=	GRCh37
NC_000007.12:g.150302782A=	NCBI36
NG_008916.1:g.8166T= , LRG_288:g.8166T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.257T= MANE Select	ENSP00000262186.5:p.Leu86=
ENST00000262186.9:c.257T=	ENSP00000262186.5:p.Leu86=
ENST00000430723.4:c.80T=	ENSP00000387657.4:p.Leu27=
ENST00000532957.5:n.480T=
NM_000238.3:c.257T= , LRG_288t1:c.257T=	NP_000229.1:p.Leu86=
NM_172056.2:c.257T= , LRG_288t2:c.257T=	NP_742053.1:p.Leu86=
XM_011516186.1:c.257T=	XP_011514488.1:p.Leu86=
XM_011516186.3:c.257T=	XP_011514488.1:p.Leu86=
XM_017012196.1:c.80T=	XP_016867685.1:p.Leu27=
NM_000238.4:c.257T= MANE Select	NP_000229.1:p.Leu86=