Canonical Allele Identifier: CA10587643

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 264633
• ClinVar RCV Id: RCV000250675
• dbSNP Id: rs886039215
• MyVariant Identifiers: chr7:g.150647311G>C (hg19) ; chr7:g.150950223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950223G>C , CM000669.2:g.150950223G>C	GRCh38
NC_000007.13:g.150647311G>C , CM000669.1:g.150647311G>C	GRCh37
NC_000007.12:g.150278244G>C	NCBI36
NG_008916.1:g.32704C>G , LRG_288:g.32704C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1641C>G
ENST00000684241.1:n.3176C>G
ENST00000262186.10:c.2343C>G MANE Select	ENSP00000262186.5:p.Phe781Leu
ENST00000330883.9:c.1323C>G	ENSP00000328531.4:p.Phe441Leu
ENST00000262186.9:c.2343C>G	ENSP00000262186.5:p.Phe781Leu
ENST00000330883.8:c.1323C>G	ENSP00000328531.4:p.Phe441Leu
ENST00000430723.4:c.1995C>G	ENSP00000387657.4:p.Phe665Leu
ENST00000461280.1:n.1630C>G
ENST00000473610.5:n.1975C>G
ENST00000532957.5:n.2566C>G
NM_000238.3:c.2343C>G , LRG_288t1:c.2343C>G	NP_000229.1:p.Phe781Leu
NM_001204798.1:c.1323C>G	NP_001191727.1:p.Phe441Leu
NM_172056.2:c.2343C>G , LRG_288t2:c.2343C>G	NP_742053.1:p.Phe781Leu
NM_172057.2:c.1323C>G , LRG_288t3:c.1323C>G	NP_742054.1:p.Phe441Leu
XM_011516185.1:c.2043C>G	XP_011514487.1:p.Phe681Leu
XM_011516186.1:c.2343C>G	XP_011514488.1:p.Phe781Leu
XM_011516185.2:c.2043C>G	XP_011514487.1:p.Phe681Leu
XM_011516186.3:c.2343C>G	XP_011514488.1:p.Phe781Leu
XM_017012195.1:c.2193C>G	XP_016867684.1:p.Phe731Leu
XM_017012196.1:c.2166C>G	XP_016867685.1:p.Phe722Leu
NM_000238.4:c.2343C>G MANE Select	NP_000229.1:p.Phe781Leu
NM_001204798.2:c.1323C>G	NP_001191727.1:p.Phe441Leu
NM_172057.3:c.1323C>G	NP_742054.1:p.Phe441Leu