Canonical Allele Identifier: CA008871

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974936T>C , CM000669.2:g.150974936T>C	GRCh38
NC_000007.13:g.150672024T>C , CM000669.1:g.150672024T>C	GRCh37
NC_000007.12:g.150302957T>C	NCBI36
NG_008916.1:g.7991A>G , LRG_288:g.7991A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.82A>G MANE Select	NP_000229.1:p.Lys28Glu
ENST00000262186.10:c.82A>G MANE Select	ENSP00000262186.5:p.Lys28Glu
NM_000238.3:c.82A>G , LRG_288t1:c.82A>G	NP_000229.1:p.Lys28Glu
NM_172056.2:c.82A>G , LRG_288t2:c.82A>G	NP_742053.1:p.Lys28Glu
ENST00000262186.9:c.82A>G	ENSP00000262186.5:p.Lys28Glu
ENST00000430723.4:c.-96A>G	ENSP00000387657.4:n.-96A>G
ENST00000532957.5:n.305A>G
XM_011516186.1:c.82A>G	XP_011514488.1:p.Lys28Glu
XM_011516186.3:c.82A>G	XP_011514488.1:p.Lys28Glu
XM_017012196.1:c.-96A>G	XP_016867685.1:n.-96A>G