Canonical Allele Identifier: CA006229

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67363
• ClinVar RCV Id: RCV000058083 ; RCV000181934 ; RCV000460303 ; RCV002415513
• dbSNP Id: rs199473419
• MyVariant Identifiers: chr7:g.150671897T>C (hg19) ; chr7:g.150974809T>C (hg38)
• PubMed: PMID:10187793 ; PMID:10973849 ; PMID:11854117 ; PMID:15051636 ; PMID:15840476 ; PMID:19716085 ; PMID:19841300 ; PMID:21536673 ; PMID:22396785 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974809T>C , CM000669.2:g.150974809T>C	GRCh38
NC_000007.13:g.150671897T>C , CM000669.1:g.150671897T>C	GRCh37
NC_000007.12:g.150302830T>C	NCBI36
NG_008916.1:g.8118A>G , LRG_288:g.8118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.209A>G MANE Select	ENSP00000262186.5:p.His70Arg
ENST00000262186.9:c.209A>G	ENSP00000262186.5:p.His70Arg
ENST00000430723.4:c.32A>G	ENSP00000387657.4:p.His11Arg
ENST00000532957.5:n.432A>G
NM_000238.3:c.209A>G , LRG_288t1:c.209A>G	NP_000229.1:p.His70Arg
NM_172056.2:c.209A>G , LRG_288t2:c.209A>G	NP_742053.1:p.His70Arg
XM_011516186.1:c.209A>G	XP_011514488.1:p.His70Arg
XM_011516186.3:c.209A>G	XP_011514488.1:p.His70Arg
XM_017012196.1:c.32A>G	XP_016867685.1:p.His11Arg
NM_000238.4:c.209A>G MANE Select	NP_000229.1:p.His70Arg