Canonical Allele Identifier: CA006249

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67364
• ClinVar RCV Id: RCV000058084
• dbSNP Id: rs199472985
• MyVariant Identifiers: chr7:g.150648037G>C (hg19) ; chr7:g.150950949G>C (hg38)
• PubMed: PMID:15028050 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950949G>C , CM000669.2:g.150950949G>C	GRCh38
NC_000007.13:g.150648037G>C , CM000669.1:g.150648037G>C	GRCh37
NC_000007.12:g.150278970G>C	NCBI36
NG_008916.1:g.31978C>G , LRG_288:g.31978C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1415C>G
ENST00000683359.1:n.241C>G
ENST00000684241.1:n.2950C>G
ENST00000262186.10:c.2117C>G MANE Select	ENSP00000262186.5:p.Ser706Cys
ENST00000330883.9:c.1097C>G	ENSP00000328531.4:p.Ser366Cys
ENST00000262186.9:c.2117C>G	ENSP00000262186.5:p.Ser706Cys
ENST00000330883.8:c.1097C>G	ENSP00000328531.4:p.Ser366Cys
ENST00000430723.4:c.1769C>G	ENSP00000387657.4:p.Ser590Cys
ENST00000461280.1:n.1404C>G
ENST00000473610.5:n.1749C>G
ENST00000532957.5:n.2340C>G
NM_000238.3:c.2117C>G , LRG_288t1:c.2117C>G	NP_000229.1:p.Ser706Cys
NM_001204798.1:c.1097C>G	NP_001191727.1:p.Ser366Cys
NM_172056.2:c.2117C>G , LRG_288t2:c.2117C>G	NP_742053.1:p.Ser706Cys
NM_172057.2:c.1097C>G , LRG_288t3:c.1097C>G	NP_742054.1:p.Ser366Cys
XM_011516185.1:c.1817C>G	XP_011514487.1:p.Ser606Cys
XM_011516186.1:c.2117C>G	XP_011514488.1:p.Ser706Cys
XM_011516185.2:c.1817C>G	XP_011514487.1:p.Ser606Cys
XM_011516186.3:c.2117C>G	XP_011514488.1:p.Ser706Cys
XM_017012195.1:c.1967C>G	XP_016867684.1:p.Ser656Cys
XM_017012196.1:c.1940C>G	XP_016867685.1:p.Ser647Cys
NM_000238.4:c.2117C>G MANE Select	NP_000229.1:p.Ser706Cys
NM_001204798.2:c.1097C>G	NP_001191727.1:p.Ser366Cys
NM_172057.3:c.1097C>G	NP_742054.1:p.Ser366Cys