Canonical Allele Identifier: CA004596
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67196
ClinVar RCV Id: RCV000057904
dbSNP Id: rs199473512
MyVariant Identifiers: chr7:g.150649653T>G (hg19) chr7:g.150952565T>G (hg38)
PubMed: PMID:20541041 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952565T>G , CM000669.2:g.150952565T>G GRCh38
NC_000007.13:g.150649653T>G , CM000669.1:g.150649653T>G GRCh37
NC_000007.12:g.150280586T>G NCBI36
NG_008916.1:g.30362A>C , LRG_288:g.30362A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.715A>C
ENST00000684116.1:n.310A>C
ENST00000684241.1:n.2250A>C
ENST00000262186.10:c.1417A>C MANE Select ENSP00000262186.5:p.Thr473Pro
ENST00000330883.9:c.397A>C ENSP00000328531.4:p.Thr133Pro
ENST00000262186.9:c.1417A>C ENSP00000262186.5:p.Thr473Pro
ENST00000330883.8:c.397A>C ENSP00000328531.4:p.Thr133Pro
ENST00000430723.4:c.1069A>C ENSP00000387657.4:p.Thr357Pro
ENST00000461280.1:n.704A>C
ENST00000473610.5:n.722A>C
ENST00000532957.5:n.1640A>C
NM_000238.3:c.1417A>C , LRG_288t1:c.1417A>C NP_000229.1:p.Thr473Pro
NM_001204798.1:c.397A>C NP_001191727.1:p.Thr133Pro
NM_172056.2:c.1417A>C , LRG_288t2:c.1417A>C NP_742053.1:p.Thr473Pro
NM_172057.2:c.397A>C , LRG_288t3:c.397A>C NP_742054.1:p.Thr133Pro
XM_011516185.1:c.1117A>C XP_011514487.1:p.Thr373Pro
XM_011516186.1:c.1417A>C XP_011514488.1:p.Thr473Pro
XM_011516185.2:c.1117A>C XP_011514487.1:p.Thr373Pro
XM_011516186.3:c.1417A>C XP_011514488.1:p.Thr473Pro
XM_017012195.1:c.1267A>C XP_016867684.1:p.Thr423Pro
XM_017012196.1:c.1240A>C XP_016867685.1:p.Thr414Pro
NM_000238.4:c.1417A>C MANE Select NP_000229.1:p.Thr473Pro
NM_001204798.2:c.397A>C NP_001191727.1:p.Thr133Pro
NM_172057.3:c.397A>C NP_742054.1:p.Thr133Pro
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