Canonical Allele Identifier: CA004782
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200809
ClinVar RCV Id: RCV001842865
dbSNP Id: rs794728508
MyVariant Identifiers: chr7:g.150671952del (hg19) chr7:g.150974864del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974864del , CM000669.2:g.150974864del GRCh38
NC_000007.13:g.150671952del , CM000669.1:g.150671952del GRCh37
NC_000007.12:g.150302885del NCBI36
NG_008916.1:g.8063del , LRG_288:g.8063del

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.154del MANE Select ENSP00000262186.5:p.Cys52AlafsTer8
ENST00000262186.9:c.154del ENSP00000262186.5:p.Cys52AlafsTer8
ENST00000430723.4:c.-24del ENSP00000387657.4:n.-24del
ENST00000532957.5:n.377del
NM_000238.3:c.154del , LRG_288t1:c.154del NP_000229.1:p.Cys52AlafsTer8
NM_172056.2:c.154del , LRG_288t2:c.154del NP_742053.1:p.Cys52AlafsTer8
XM_011516186.1:c.154del XP_011514488.1:p.Cys52AlafsTer8
XM_011516186.3:c.154del XP_011514488.1:p.Cys52AlafsTer8
XM_017012196.1:c.-24del XP_016867685.1:n.-24del
NM_000238.4:c.154del MANE Select NP_000229.1:p.Cys52AlafsTer8
Search 100 bp 5'
Search 100 bp 3'