Canonical Allele Identifier: CA005322

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974845T>G , CM000669.2:g.150974845T>G	GRCh38
NC_000007.13:g.150671933T>G , CM000669.1:g.150671933T>G	GRCh37
NC_000007.12:g.150302866T>G	NCBI36
NG_008916.1:g.8082A>C , LRG_288:g.8082A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.173A>C MANE Select	NP_000229.1:p.Glu58Ala
ENST00000262186.10:c.173A>C MANE Select	ENSP00000262186.5:p.Glu58Ala
NM_000238.3:c.173A>C , LRG_288t1:c.173A>C	NP_000229.1:p.Glu58Ala
NM_172056.2:c.173A>C , LRG_288t2:c.173A>C	NP_742053.1:p.Glu58Ala
ENST00000262186.9:c.173A>C	ENSP00000262186.5:p.Glu58Ala
ENST00000430723.4:c.-5A>C	ENSP00000387657.4:n.-5A>C
ENST00000532957.5:n.396A>C
XM_011516186.1:c.173A>C	XP_011514488.1:p.Glu58Ala
XM_011516186.3:c.173A>C	XP_011514488.1:p.Glu58Ala
XM_017012196.1:c.-5A>C	XP_016867685.1:n.-5A>C