Canonical Allele Identifier: CA008196

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67489
• ClinVar RCV Id: RCV000058218
• dbSNP Id: rs199472860
• MyVariant Identifiers: chr7:g.150656800T>A (hg19) ; chr7:g.150959712T>A (hg38)
• PubMed: PMID:18441445 ; PMID:20975234 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959712T>A , CM000669.2:g.150959712T>A	GRCh38
NC_000007.13:g.150656800T>A , CM000669.1:g.150656800T>A	GRCh37
NC_000007.12:g.150287733T>A	NCBI36
NG_008916.1:g.23215A>T , LRG_288:g.23215A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1165A>T
ENST00000262186.10:c.332A>T MANE Select	ENSP00000262186.5:p.Asp111Val
ENST00000262186.9:c.332A>T	ENSP00000262186.5:p.Asp111Val
ENST00000430723.4:c.155A>T	ENSP00000387657.4:p.Asp52Val
ENST00000532957.5:n.555A>T
NM_000238.3:c.332A>T , LRG_288t1:c.332A>T	NP_000229.1:p.Asp111Val
NM_172056.2:c.332A>T , LRG_288t2:c.332A>T	NP_742053.1:p.Asp111Val
XM_011516185.1:c.32A>T	XP_011514487.1:p.Asp11Val
XM_011516186.1:c.332A>T	XP_011514488.1:p.Asp111Val
XM_011516185.2:c.32A>T	XP_011514487.1:p.Asp11Val
XM_011516186.3:c.332A>T	XP_011514488.1:p.Asp111Val
XM_017012195.1:c.182A>T	XP_016867684.1:p.Asp61Val
XM_017012196.1:c.155A>T	XP_016867685.1:p.Asp52Val
NM_000238.4:c.332A>T MANE Select	NP_000229.1:p.Asp111Val