Canonical Allele Identifier: CA369862219

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1910822
• ClinVar RCV Id: RCV002589397
• gnomAD v4: 7-150958109-T-C
• MyVariant Identifiers: chr7:g.150655197T>C (hg19) ; chr7:g.150958109T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1699A>G
ENST00000262186.10:c.866A>G MANE Select	ENSP00000262186.5:p.Glu289Gly
ENST00000262186.9:c.866A>G	ENSP00000262186.5:p.Glu289Gly
ENST00000430723.4:c.518A>G	ENSP00000387657.4:p.Glu173Gly
ENST00000532957.5:n.1089A>G
NM_000238.3:c.866A>G , LRG_288t1:c.866A>G	NP_000229.1:p.Glu289Gly
NM_172056.2:c.866A>G , LRG_288t2:c.866A>G	NP_742053.1:p.Glu289Gly
XM_011516185.1:c.566A>G	XP_011514487.1:p.Glu189Gly
XM_011516186.1:c.866A>G	XP_011514488.1:p.Glu289Gly
XM_011516185.2:c.566A>G	XP_011514487.1:p.Glu189Gly
XM_011516186.3:c.866A>G	XP_011514488.1:p.Glu289Gly
XM_017012195.1:c.716A>G	XP_016867684.1:p.Glu239Gly
XM_017012196.1:c.689A>G	XP_016867685.1:p.Glu230Gly
NM_000238.4:c.866A>G MANE Select	NP_000229.1:p.Glu289Gly