Canonical Allele Identifier: CA16618411
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419379
ClinVar RCV Id: RCV000486763 RCV001387858
dbSNP Id: rs1064793832
MyVariant Identifiers: chr7:g.150649557del (hg19) chr7:g.150952469del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952469del , CM000669.2:g.150952469del GRCh38
NC_000007.13:g.150649557del , CM000669.1:g.150649557del GRCh37
NC_000007.12:g.150280490del NCBI36
NG_008916.1:g.30458del , LRG_288:g.30458del

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.811del
ENST00000684116.1:n.406del
ENST00000684241.1:n.2346del
ENST00000262186.10:c.1513del MANE Select ENSP00000262186.5:p.Ala505ProfsTer16
ENST00000330883.9:c.493del ENSP00000328531.4:p.Ala165ProfsTer16
ENST00000262186.9:c.1513del ENSP00000262186.5:p.Ala505ProfsTer16
ENST00000330883.8:c.493del ENSP00000328531.4:p.Ala165ProfsTer16
ENST00000430723.4:c.1165del ENSP00000387657.4:p.Ala389ProfsTer16
ENST00000461280.1:n.800del
ENST00000473610.5:n.818del
ENST00000532957.5:n.1736del
NM_000238.3:c.1513del , LRG_288t1:c.1513del NP_000229.1:p.Ala505ProfsTer16
NM_001204798.1:c.493del NP_001191727.1:p.Ala165ProfsTer16
NM_172056.2:c.1513del , LRG_288t2:c.1513del NP_742053.1:p.Ala505ProfsTer16
NM_172057.2:c.493del , LRG_288t3:c.493del NP_742054.1:p.Ala165ProfsTer16
XM_011516185.1:c.1213del XP_011514487.1:p.Ala405ProfsTer16
XM_011516186.1:c.1513del XP_011514488.1:p.Ala505ProfsTer16
XM_011516185.2:c.1213del XP_011514487.1:p.Ala405ProfsTer16
XM_011516186.3:c.1513del XP_011514488.1:p.Ala505ProfsTer16
XM_017012195.1:c.1363del XP_016867684.1:p.Ala455ProfsTer16
XM_017012196.1:c.1336del XP_016867685.1:p.Ala446ProfsTer16
NM_000238.4:c.1513del MANE Select NP_000229.1:p.Ala505ProfsTer16
NM_001204798.2:c.493del NP_001191727.1:p.Ala165ProfsTer16
NM_172057.3:c.493del NP_742054.1:p.Ala165ProfsTer16
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