Canonical Allele Identifier: CA005440
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67268
ClinVar RCV Id: RCV000057983
dbSNP Id: rs199472930
MyVariant Identifiers: chr7:g.150648704T>C (hg19) chr7:g.150951616T>C (hg38)
PubMed: PMID:18441445 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951616T>C , CM000669.2:g.150951616T>C GRCh38
NC_000007.13:g.150648704T>C , CM000669.1:g.150648704T>C GRCh37
NC_000007.12:g.150279637T>C NCBI36
NG_008916.1:g.31311A>G , LRG_288:g.31311A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1075A>G
ENST00000684241.1:n.2610A>G
ENST00000262186.10:c.1777A>G MANE Select ENSP00000262186.5:p.Ile593Val
ENST00000330883.9:c.757A>G ENSP00000328531.4:p.Ile253Val
ENST00000262186.9:c.1777A>G ENSP00000262186.5:p.Ile593Val
ENST00000330883.8:c.757A>G ENSP00000328531.4:p.Ile253Val
ENST00000430723.4:c.1429A>G ENSP00000387657.4:p.Ile477Val
ENST00000461280.1:n.1064A>G
ENST00000473610.5:n.1082A>G
ENST00000532957.5:n.2000A>G
NM_000238.3:c.1777A>G , LRG_288t1:c.1777A>G NP_000229.1:p.Ile593Val
NM_001204798.1:c.757A>G NP_001191727.1:p.Ile253Val
NM_172056.2:c.1777A>G , LRG_288t2:c.1777A>G NP_742053.1:p.Ile593Val
NM_172057.2:c.757A>G , LRG_288t3:c.757A>G NP_742054.1:p.Ile253Val
XM_011516185.1:c.1477A>G XP_011514487.1:p.Ile493Val
XM_011516186.1:c.1777A>G XP_011514488.1:p.Ile593Val
XM_011516185.2:c.1477A>G XP_011514487.1:p.Ile493Val
XM_011516186.3:c.1777A>G XP_011514488.1:p.Ile593Val
XM_017012195.1:c.1627A>G XP_016867684.1:p.Ile543Val
XM_017012196.1:c.1600A>G XP_016867685.1:p.Ile534Val
NM_000238.4:c.1777A>G MANE Select NP_000229.1:p.Ile593Val
NM_001204798.2:c.757A>G NP_001191727.1:p.Ile253Val
NM_172057.3:c.757A>G NP_742054.1:p.Ile253Val
Search 100 bp 5'
Search 100 bp 3'