Canonical Allele Identifier: CA369865625

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 940257
• ClinVar RCV Id: RCV001209799
• dbSNP Id: rs1801935420
• MyVariant Identifiers: chr7:g.150671903A>C (hg19) ; chr7:g.150974815A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974815A>C , CM000669.2:g.150974815A>C	GRCh38
NC_000007.13:g.150671903A>C , CM000669.1:g.150671903A>C	GRCh37
NC_000007.12:g.150302836A>C	NCBI36
NG_008916.1:g.8112T>G , LRG_288:g.8112T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.203T>G MANE Select	ENSP00000262186.5:p.Phe68Cys
ENST00000262186.9:c.203T>G	ENSP00000262186.5:p.Phe68Cys
ENST00000430723.4:c.26T>G	ENSP00000387657.4:p.Phe9Cys
ENST00000532957.5:n.426T>G
NM_000238.3:c.203T>G , LRG_288t1:c.203T>G	NP_000229.1:p.Phe68Cys
NM_172056.2:c.203T>G , LRG_288t2:c.203T>G	NP_742053.1:p.Phe68Cys
XM_011516186.1:c.203T>G	XP_011514488.1:p.Phe68Cys
XM_011516186.3:c.203T>G	XP_011514488.1:p.Phe68Cys
XM_017012196.1:c.26T>G	XP_016867685.1:p.Phe9Cys
NM_000238.4:c.203T>G MANE Select	NP_000229.1:p.Phe68Cys