Canonical Allele Identifier: CA006689

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67394
• ClinVar RCV Id: RCV000058116
• dbSNP Id: rs199473536
• MyVariant Identifiers: chr7:g.150646137C>T (hg19) ; chr7:g.150949049C>T (hg38)
• PubMed: PMID:19862833 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949049C>T , CM000669.2:g.150949049C>T	GRCh38
NC_000007.13:g.150646137C>T , CM000669.1:g.150646137C>T	GRCh37
NC_000007.12:g.150277070C>T	NCBI36
NG_008916.1:g.33878G>A , LRG_288:g.33878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3232G>A
ENST00000262186.10:c.2399G>A MANE Select	ENSP00000262186.5:p.Gly800Glu
ENST00000330883.9:c.1379G>A	ENSP00000328531.4:p.Gly460Glu
ENST00000262186.9:c.2399G>A	ENSP00000262186.5:p.Gly800Glu
ENST00000330883.8:c.1379G>A	ENSP00000328531.4:p.Gly460Glu
NM_000238.3:c.2399G>A , LRG_288t1:c.2399G>A	NP_000229.1:p.Gly800Glu
NM_172057.2:c.1379G>A , LRG_288t3:c.1379G>A	NP_742054.1:p.Gly460Glu
XM_011516185.1:c.2099G>A	XP_011514487.1:p.Gly700Glu
XM_011516186.1:c.2399G>A	XP_011514488.1:p.Gly800Glu
XM_011516185.2:c.2099G>A	XP_011514487.1:p.Gly700Glu
XM_011516186.3:c.2399G>A	XP_011514488.1:p.Gly800Glu
XM_017012195.1:c.2249G>A	XP_016867684.1:p.Gly750Glu
XM_017012196.1:c.2222G>A	XP_016867685.1:p.Gly741Glu
NM_000238.4:c.2399G>A MANE Select	NP_000229.1:p.Gly800Glu
NM_172057.3:c.1379G>A	NP_742054.1:p.Gly460Glu