Canonical Allele Identifier: CA008406

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200280
• ClinVar RCV Id: RCV000181754 ; RCV002516842 ; RCV002362931
• dbSNP Id: rs764831888
• MyVariant Identifiers: chr7:g.150656745G>C (hg19) ; chr7:g.150959657G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959657G>C , CM000669.2:g.150959657G>C	GRCh38
NC_000007.13:g.150656745G>C , CM000669.1:g.150656745G>C	GRCh37
NC_000007.12:g.150287678G>C	NCBI36
NG_008916.1:g.23270C>G , LRG_288:g.23270C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1220C>G
ENST00000262186.10:c.387C>G MANE Select	ENSP00000262186.5:p.Phe129Leu
ENST00000262186.9:c.387C>G	ENSP00000262186.5:p.Phe129Leu
ENST00000430723.4:c.210C>G	ENSP00000387657.4:p.Phe70Leu
ENST00000532957.5:n.610C>G
NM_000238.3:c.387C>G , LRG_288t1:c.387C>G	NP_000229.1:p.Phe129Leu
NM_172056.2:c.387C>G , LRG_288t2:c.387C>G	NP_742053.1:p.Phe129Leu
XM_011516185.1:c.87C>G	XP_011514487.1:p.Phe29Leu
XM_011516186.1:c.387C>G	XP_011514488.1:p.Phe129Leu
XM_011516185.2:c.87C>G	XP_011514487.1:p.Phe29Leu
XM_011516186.3:c.387C>G	XP_011514488.1:p.Phe129Leu
XM_017012195.1:c.237C>G	XP_016867684.1:p.Phe79Leu
XM_017012196.1:c.210C>G	XP_016867685.1:p.Phe70Leu
NM_000238.4:c.387C>G MANE Select	NP_000229.1:p.Phe129Leu