Canonical Allele Identifier: CA369862217

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958109-T-A
• MyVariant Identifiers: chr7:g.150655197T>A (hg19) ; chr7:g.150958109T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958109T>A , CM000669.2:g.150958109T>A	GRCh38
NC_000007.13:g.150655197T>A , CM000669.1:g.150655197T>A	GRCh37
NC_000007.12:g.150286130T>A	NCBI36
NG_008916.1:g.24818A>T , LRG_288:g.24818A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1699A>T
ENST00000262186.10:c.866A>T MANE Select	ENSP00000262186.5:p.Glu289Val
ENST00000262186.9:c.866A>T	ENSP00000262186.5:p.Glu289Val
ENST00000430723.4:c.518A>T	ENSP00000387657.4:p.Glu173Val
ENST00000532957.5:n.1089A>T
NM_000238.3:c.866A>T , LRG_288t1:c.866A>T	NP_000229.1:p.Glu289Val
NM_172056.2:c.866A>T , LRG_288t2:c.866A>T	NP_742053.1:p.Glu289Val
XM_011516185.1:c.566A>T	XP_011514487.1:p.Glu189Val
XM_011516186.1:c.866A>T	XP_011514488.1:p.Glu289Val
XM_011516185.2:c.566A>T	XP_011514487.1:p.Glu189Val
XM_011516186.3:c.866A>T	XP_011514488.1:p.Glu289Val
XM_017012195.1:c.716A>T	XP_016867684.1:p.Glu239Val
XM_017012196.1:c.689A>T	XP_016867685.1:p.Glu230Val
NM_000238.4:c.866A>T MANE Select	NP_000229.1:p.Glu289Val