Canonical Allele Identifier: CA005006

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67228
• ClinVar RCV Id: RCV000057938 ; RCV000462413
• dbSNP Id: rs199472845
• MyVariant Identifiers: chr7:g.150671939C>T (hg19) ; chr7:g.150974851C>T (hg38)
• PubMed: PMID:10187793 ; PMID:10973849 ; PMID:11854117 ; PMID:21536673 ; PMID:22396785 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974851C>T , CM000669.2:g.150974851C>T	GRCh38
NC_000007.13:g.150671939C>T , CM000669.1:g.150671939C>T	GRCh37
NC_000007.12:g.150302872C>T	NCBI36
NG_008916.1:g.8076G>A , LRG_288:g.8076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.167G>A MANE Select	ENSP00000262186.5:p.Arg56Gln
ENST00000262186.9:c.167G>A	ENSP00000262186.5:p.Arg56Gln
ENST00000430723.4:c.-11G>A	ENSP00000387657.4:n.-11G>A
ENST00000532957.5:n.390G>A
NM_000238.3:c.167G>A , LRG_288t1:c.167G>A	NP_000229.1:p.Arg56Gln
NM_172056.2:c.167G>A , LRG_288t2:c.167G>A	NP_742053.1:p.Arg56Gln
XM_011516186.1:c.167G>A	XP_011514488.1:p.Arg56Gln
XM_011516186.3:c.167G>A	XP_011514488.1:p.Arg56Gln
XM_017012196.1:c.-11G>A	XP_016867685.1:n.-11G>A
NM_000238.4:c.167G>A MANE Select	NP_000229.1:p.Arg56Gln