Canonical Allele Identifier: CA009070

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67553
• ClinVar RCV Id: RCV000058282 ; RCV000780363 ; RCV003343627
• dbSNP Id: rs199473487
• MyVariant Identifiers: chr7:g.150672008T>G (hg19) ; chr7:g.150974920T>G (hg38)
• PubMed: PMID:10187793 ; PMID:10973849 ; PMID:11854117 ; PMID:14661677 ; PMID:19841300 ; PMID:21536673 ; PMID:22396785 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974920T>G , CM000669.2:g.150974920T>G	GRCh38
NC_000007.13:g.150672008T>G , CM000669.1:g.150672008T>G	GRCh37
NC_000007.12:g.150302941T>G	NCBI36
NG_008916.1:g.8007A>C , LRG_288:g.8007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.98A>C MANE Select	ENSP00000262186.5:p.Asn33Thr
ENST00000262186.9:c.98A>C	ENSP00000262186.5:p.Asn33Thr
ENST00000430723.4:c.-80A>C	ENSP00000387657.4:n.-80A>C
ENST00000532957.5:n.321A>C
NM_000238.3:c.98A>C , LRG_288t1:c.98A>C	NP_000229.1:p.Asn33Thr
NM_172056.2:c.98A>C , LRG_288t2:c.98A>C	NP_742053.1:p.Asn33Thr
XM_011516186.1:c.98A>C	XP_011514488.1:p.Asn33Thr
XM_011516186.3:c.98A>C	XP_011514488.1:p.Asn33Thr
XM_017012196.1:c.-80A>C	XP_016867685.1:n.-80A>C
NM_000238.4:c.98A>C MANE Select	NP_000229.1:p.Asn33Thr