Canonical Allele Identifier: CA1752441201

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974883G= , CM000669.2:g.150974883G=	GRCh38
NC_000007.13:g.150671971G= , CM000669.1:g.150671971G=	GRCh37
NC_000007.12:g.150302904G=	NCBI36
NG_008916.1:g.8044C= , LRG_288:g.8044C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.135C= MANE Select	ENSP00000262186.5:p.Asn45=
ENST00000262186.9:c.135C=	ENSP00000262186.5:p.Asn45=
ENST00000430723.4:c.-43C=	ENSP00000387657.4:n.-43C=
ENST00000532957.5:n.358C=
NM_000238.3:c.135C= , LRG_288t1:c.135C=	NP_000229.1:p.Asn45=
NM_172056.2:c.135C= , LRG_288t2:c.135C=	NP_742053.1:p.Asn45=
XM_011516186.1:c.135C=	XP_011514488.1:p.Asn45=
XM_011516186.3:c.135C=	XP_011514488.1:p.Asn45=
XM_017012196.1:c.-43C=	XP_016867685.1:n.-43C=
NM_000238.4:c.135C= MANE Select	NP_000229.1:p.Asn45=