Canonical Allele Identifier: CA004804

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974862G>T , CM000669.2:g.150974862G>T	GRCh38
NC_000007.13:g.150671950G>T , CM000669.1:g.150671950G>T	GRCh37
NC_000007.12:g.150302883G>T	NCBI36
NG_008916.1:g.8065C>A , LRG_288:g.8065C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.156C>A MANE Select	NP_000229.1:p.Cys52Ter
ENST00000262186.10:c.156C>A MANE Select	ENSP00000262186.5:p.Cys52Ter
NM_000238.3:c.156C>A , LRG_288t1:c.156C>A	NP_000229.1:p.Cys52Ter
NM_172056.2:c.156C>A , LRG_288t2:c.156C>A	NP_742053.1:p.Cys52Ter
ENST00000262186.9:c.156C>A	ENSP00000262186.5:p.Cys52Ter
ENST00000430723.4:c.-22C>A	ENSP00000387657.4:n.-22C>A
ENST00000532957.5:n.379C>A
XM_011516186.1:c.156C>A	XP_011514488.1:p.Cys52Ter
XM_011516186.3:c.156C>A	XP_011514488.1:p.Cys52Ter
XM_017012196.1:c.-22C>A	XP_016867685.1:n.-22C>A