Canonical Allele Identifier: CA006518
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200431
ClinVar RCV Id: RCV000619839 RCV001042788
dbSNP Id: rs794728388
MyVariant Identifiers: chr7:g.150647288A>G (hg19) chr7:g.150950200A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950200A>G , CM000669.2:g.150950200A>G GRCh38
NC_000007.13:g.150647288A>G , CM000669.1:g.150647288A>G GRCh37
NC_000007.12:g.150278221A>G NCBI36
NG_008916.1:g.32727T>C , LRG_288:g.32727T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1664T>C
ENST00000684241.1:n.3199T>C
ENST00000262186.10:c.2366T>C MANE Select ENSP00000262186.5:p.Ile789Thr
ENST00000330883.9:c.1346T>C ENSP00000328531.4:p.Ile449Thr
ENST00000262186.9:c.2366T>C ENSP00000262186.5:p.Ile789Thr
ENST00000330883.8:c.1346T>C ENSP00000328531.4:p.Ile449Thr
ENST00000430723.4:c.2018T>C ENSP00000387657.4:p.Ile673Thr
ENST00000461280.1:n.1653T>C
ENST00000473610.5:n.1998T>C
ENST00000532957.5:n.2589T>C
NM_000238.3:c.2366T>C , LRG_288t1:c.2366T>C NP_000229.1:p.Ile789Thr
NM_001204798.1:c.1346T>C NP_001191727.1:p.Ile449Thr
NM_172056.2:c.2366T>C , LRG_288t2:c.2366T>C NP_742053.1:p.Ile789Thr
NM_172057.2:c.1346T>C , LRG_288t3:c.1346T>C NP_742054.1:p.Ile449Thr
XM_011516185.1:c.2066T>C XP_011514487.1:p.Ile689Thr
XM_011516186.1:c.2366T>C XP_011514488.1:p.Ile789Thr
XM_011516185.2:c.2066T>C XP_011514487.1:p.Ile689Thr
XM_011516186.3:c.2366T>C XP_011514488.1:p.Ile789Thr
XM_017012195.1:c.2216T>C XP_016867684.1:p.Ile739Thr
XM_017012196.1:c.2189T>C XP_016867685.1:p.Ile730Thr
NM_000238.4:c.2366T>C MANE Select NP_000229.1:p.Ile789Thr
NM_001204798.2:c.1346T>C NP_001191727.1:p.Ile449Thr
NM_172057.3:c.1346T>C NP_742054.1:p.Ile449Thr
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