Canonical Allele Identifier: CA004177

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67162
• ClinVar RCV Id: RCV000057869
• dbSNP Id: rs199472889
• MyVariant Identifiers: chr7:g.150654482T>A (hg19) ; chr7:g.150957394T>A (hg38)
• PubMed: PMID:19843919 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957394T>A , CM000669.2:g.150957394T>A	GRCh38
NC_000007.13:g.150654482T>A , CM000669.1:g.150654482T>A	GRCh37
NC_000007.12:g.150285415T>A	NCBI36
NG_008916.1:g.25533A>T , LRG_288:g.25533A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1858A>T
ENST00000262186.10:c.1025A>T MANE Select	ENSP00000262186.5:p.Asp342Val
ENST00000262186.9:c.1025A>T	ENSP00000262186.5:p.Asp342Val
ENST00000430723.4:c.677A>T	ENSP00000387657.4:p.Asp226Val
ENST00000532957.5:n.1248A>T
NM_000238.3:c.1025A>T , LRG_288t1:c.1025A>T	NP_000229.1:p.Asp342Val
NM_172056.2:c.1025A>T , LRG_288t2:c.1025A>T	NP_742053.1:p.Asp342Val
XM_011516185.1:c.725A>T	XP_011514487.1:p.Asp242Val
XM_011516186.1:c.1025A>T	XP_011514488.1:p.Asp342Val
XM_011516185.2:c.725A>T	XP_011514487.1:p.Asp242Val
XM_011516186.3:c.1025A>T	XP_011514488.1:p.Asp342Val
XM_017012195.1:c.875A>T	XP_016867684.1:p.Asp292Val
XM_017012196.1:c.848A>T	XP_016867685.1:p.Asp283Val
NM_000238.4:c.1025A>T MANE Select	NP_000229.1:p.Asp342Val