Canonical Allele Identifier: CA008902
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200618
ClinVar RCV Id: RCV001842845
dbSNP Id: rs794728428
MyVariant Identifiers: chr7:g.150655204_150655210del (hg19) chr7:g.150958116_150958122del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958118_150958124del , CM000669.2:g.150958118_150958124del GRCh38
NC_000007.13:g.150655206_150655212del , CM000669.1:g.150655206_150655212del GRCh37
NC_000007.12:g.150286139_150286145del NCBI36
NG_008916.1:g.24805_24811del , LRG_288:g.24805_24811del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1686_1692del
ENST00000262186.10:c.853_859del MANE Select ENSP00000262186.5:p.Ala285ThrfsTer?
ENST00000262186.9:c.853_859del ENSP00000262186.5:p.Ala285ThrfsTer?
ENST00000430723.4:c.505_511del ENSP00000387657.4:p.Ala169ThrfsTer?
ENST00000532957.5:n.1076_1082del
NM_000238.3:c.853_859del , LRG_288t1:c.853_859del NP_000229.1:p.Ala285ThrfsTer?
NM_172056.2:c.853_859del , LRG_288t2:c.853_859del NP_742053.1:p.Ala285ThrfsTer?
XM_011516185.1:c.553_559del XP_011514487.1:p.Ala185ThrfsTer?
XM_011516186.1:c.853_859del XP_011514488.1:p.Ala285ThrfsTer?
XM_011516185.2:c.553_559del XP_011514487.1:p.Ala185ThrfsTer?
XM_011516186.3:c.853_859del XP_011514488.1:p.Ala285ThrfsTer?
XM_017012195.1:c.703_709del XP_016867684.1:p.Ala235ThrfsTer?
XM_017012196.1:c.676_682del XP_016867685.1:p.Ala226ThrfsTer?
NM_000238.4:c.853_859del MANE Select NP_000229.1:p.Ala285ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'