Canonical Allele Identifier: CA006681
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67393
ClinVar RCV Id: RCV000058115
dbSNP Id: rs199472998
MyVariant Identifiers: chr7:g.150647256C>A (hg19) chr7:g.150950168C>A (hg38)
PubMed: PMID:16414944 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950168C>A , CM000669.2:g.150950168C>A GRCh38
NC_000007.13:g.150647256C>A , CM000669.1:g.150647256C>A GRCh37
NC_000007.12:g.150278189C>A NCBI36
NG_008916.1:g.32759G>T , LRG_288:g.32759G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1696G>T
ENST00000684241.1:n.3231G>T
ENST00000262186.10:c.2398G>T MANE Select ENSP00000262186.5:p.Gly800Trp
ENST00000330883.9:c.1378G>T ENSP00000328531.4:p.Gly460Trp
ENST00000262186.9:c.2398G>T ENSP00000262186.5:p.Gly800Trp
ENST00000330883.8:c.1378G>T ENSP00000328531.4:p.Gly460Trp
ENST00000430723.4:c.2050G>T ENSP00000387657.4:p.Gly684Cys
ENST00000461280.1:n.1685G>T
ENST00000473610.5:n.2030G>T
ENST00000532957.5:n.2621G>T
NM_000238.3:c.2398G>T , LRG_288t1:c.2398G>T NP_000229.1:p.Gly800Trp
NM_001204798.1:c.1378G>T NP_001191727.1:p.Gly460Cys
NM_172056.2:c.2398G>T , LRG_288t2:c.2398G>T NP_742053.1:p.Gly800Cys
NM_172057.2:c.1378G>T , LRG_288t3:c.1378G>T NP_742054.1:p.Gly460Trp
XM_011516185.1:c.2098G>T XP_011514487.1:p.Gly700Trp
XM_011516186.1:c.2398G>T XP_011514488.1:p.Gly800Trp
XM_011516185.2:c.2098G>T XP_011514487.1:p.Gly700Trp
XM_011516186.3:c.2398G>T XP_011514488.1:p.Gly800Trp
XM_017012195.1:c.2248G>T XP_016867684.1:p.Gly750Trp
XM_017012196.1:c.2221G>T XP_016867685.1:p.Gly741Trp
NM_000238.4:c.2398G>T MANE Select NP_000229.1:p.Gly800Trp
NM_001204798.2:c.1378G>T NP_001191727.1:p.Gly460Cys
NM_172057.3:c.1378G>T NP_742054.1:p.Gly460Trp
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