Canonical Allele Identifier: CA007817

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67462
• ClinVar RCV Id: RCV000058190 ; RCV000182053 ; RCV001364660 ; RCV002247459
• dbSNP Id: rs199472856
• MyVariant Identifiers: chr7:g.150671805T>C (hg19) ; chr7:g.150974717T>C (hg38)
• PubMed: PMID:11468227 ; PMID:11668638 ; PMID:15670565 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974717T>C , CM000669.2:g.150974717T>C	GRCh38
NC_000007.13:g.150671805T>C , CM000669.1:g.150671805T>C	GRCh37
NC_000007.12:g.150302738T>C	NCBI36
NG_008916.1:g.8210A>G , LRG_288:g.8210A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.301A>G MANE Select	ENSP00000262186.5:p.Lys101Glu
ENST00000262186.9:c.301A>G	ENSP00000262186.5:p.Lys101Glu
ENST00000430723.4:c.124A>G	ENSP00000387657.4:p.Lys42Glu
ENST00000532957.5:n.524A>G
NM_000238.3:c.301A>G , LRG_288t1:c.301A>G	NP_000229.1:p.Lys101Glu
NM_172056.2:c.301A>G , LRG_288t2:c.301A>G	NP_742053.1:p.Lys101Glu
XM_011516186.1:c.301A>G	XP_011514488.1:p.Lys101Glu
XM_011516186.3:c.301A>G	XP_011514488.1:p.Lys101Glu
XM_017012196.1:c.124A>G	XP_016867685.1:p.Lys42Glu
NM_000238.4:c.301A>G MANE Select	NP_000229.1:p.Lys101Glu