Canonical Allele Identifier: CA006412

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67381
• ClinVar RCV Id: RCV000058102 ; RCV001031014 ; RCV002514287
• dbSNP Id: rs199473534
• gnomAD v3: 7-150950300-T-C
• gnomAD v4: 7-150950300-T-C
• MyVariant Identifiers: chr7:g.150647388T>C (hg19) ; chr7:g.150950300T>C (hg38)
• PubMed: PMID:19843919 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950300T>C , CM000669.2:g.150950300T>C	GRCh38
NC_000007.13:g.150647388T>C , CM000669.1:g.150647388T>C	GRCh37
NC_000007.12:g.150278321T>C	NCBI36
NG_008916.1:g.32627A>G , LRG_288:g.32627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1564A>G
ENST00000684241.1:n.3099A>G
ENST00000262186.10:c.2266A>G MANE Select	ENSP00000262186.5:p.Met756Val
ENST00000330883.9:c.1246A>G	ENSP00000328531.4:p.Met416Val
ENST00000262186.9:c.2266A>G	ENSP00000262186.5:p.Met756Val
ENST00000330883.8:c.1246A>G	ENSP00000328531.4:p.Met416Val
ENST00000430723.4:c.1918A>G	ENSP00000387657.4:p.Met640Val
ENST00000461280.1:n.1553A>G
ENST00000473610.5:n.1898A>G
ENST00000532957.5:n.2489A>G
NM_000238.3:c.2266A>G , LRG_288t1:c.2266A>G	NP_000229.1:p.Met756Val
NM_001204798.1:c.1246A>G	NP_001191727.1:p.Met416Val
NM_172056.2:c.2266A>G , LRG_288t2:c.2266A>G	NP_742053.1:p.Met756Val
NM_172057.2:c.1246A>G , LRG_288t3:c.1246A>G	NP_742054.1:p.Met416Val
XM_011516185.1:c.1966A>G	XP_011514487.1:p.Met656Val
XM_011516186.1:c.2266A>G	XP_011514488.1:p.Met756Val
XM_011516185.2:c.1966A>G	XP_011514487.1:p.Met656Val
XM_011516186.3:c.2266A>G	XP_011514488.1:p.Met756Val
XM_017012195.1:c.2116A>G	XP_016867684.1:p.Met706Val
XM_017012196.1:c.2089A>G	XP_016867685.1:p.Met697Val
NM_000238.4:c.2266A>G MANE Select	NP_000229.1:p.Met756Val
NM_001204798.2:c.1246A>G	NP_001191727.1:p.Met416Val
NM_172057.3:c.1246A>G	NP_742054.1:p.Met416Val