Canonical Allele Identifier: CA004624
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67199
ClinVar RCV Id: RCV000057907
dbSNP Id: rs199472907
MyVariant Identifiers: chr7:g.150649646T>C (hg19) chr7:g.150952558T>C (hg38)
PubMed: PMID:16831322 PMID:19716085 PMID:22581653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952558T>C , CM000669.2:g.150952558T>C GRCh38
NC_000007.13:g.150649646T>C , CM000669.1:g.150649646T>C GRCh37
NC_000007.12:g.150280579T>C NCBI36
NG_008916.1:g.30369A>G , LRG_288:g.30369A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.722A>G
ENST00000684116.1:n.317A>G
ENST00000684241.1:n.2257A>G
ENST00000262186.10:c.1424A>G MANE Select ENSP00000262186.5:p.Tyr475Cys
ENST00000330883.9:c.404A>G ENSP00000328531.4:p.Tyr135Cys
ENST00000262186.9:c.1424A>G ENSP00000262186.5:p.Tyr475Cys
ENST00000330883.8:c.404A>G ENSP00000328531.4:p.Tyr135Cys
ENST00000430723.4:c.1076A>G ENSP00000387657.4:p.Tyr359Cys
ENST00000461280.1:n.711A>G
ENST00000473610.5:n.729A>G
ENST00000532957.5:n.1647A>G
NM_000238.3:c.1424A>G , LRG_288t1:c.1424A>G NP_000229.1:p.Tyr475Cys
NM_001204798.1:c.404A>G NP_001191727.1:p.Tyr135Cys
NM_172056.2:c.1424A>G , LRG_288t2:c.1424A>G NP_742053.1:p.Tyr475Cys
NM_172057.2:c.404A>G , LRG_288t3:c.404A>G NP_742054.1:p.Tyr135Cys
XM_011516185.1:c.1124A>G XP_011514487.1:p.Tyr375Cys
XM_011516186.1:c.1424A>G XP_011514488.1:p.Tyr475Cys
XM_011516185.2:c.1124A>G XP_011514487.1:p.Tyr375Cys
XM_011516186.3:c.1424A>G XP_011514488.1:p.Tyr475Cys
XM_017012195.1:c.1274A>G XP_016867684.1:p.Tyr425Cys
XM_017012196.1:c.1247A>G XP_016867685.1:p.Tyr416Cys
NM_000238.4:c.1424A>G MANE Select NP_000229.1:p.Tyr475Cys
NM_001204798.2:c.404A>G NP_001191727.1:p.Tyr135Cys
NM_172057.3:c.404A>G NP_742054.1:p.Tyr135Cys
Search 100 bp 5'
Search 100 bp 3'