Canonical Allele Identifier: CA578706908
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs924035781
gnomAD v2: 7-150671699-G-GCCCCCACA
gnomAD v3: 7-150974611-G-GCCCCCACA
gnomAD v4: 7-150974611-G-GCCCCCACA
MyVariant Identifiers: chr7:g.150671707_150671708insCCCCCACA (hg19) chr7:g.150671699_150671700insCCCCCACA (hg19) chr7:g.150974619_150974620insCCCCCACA (hg38) chr7:g.150974611_150974612insCCCCCACA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974627_150974634dup , CM000669.2:g.150974627_150974634dup GRCh38
NC_000007.13:g.150671715_150671722dup , CM000669.1:g.150671715_150671722dup GRCh37
NC_000007.12:g.150302648_150302655dup NCBI36
NG_008916.1:g.8308_8315dup , LRG_288:g.8308_8315dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.307+92_307+99dup MANE Select ENSP00000262186.5:n.307+92_307+99dup
ENST00000262186.9:c.307+92_307+99dup ENSP00000262186.5:n.307+92_307+99dup
ENST00000430723.4:c.130+92_130+99dup ENSP00000387657.4:n.130+92_130+99dup
ENST00000532957.5:n.530+92_530+99dup
NM_000238.3:c.307+92_307+99dup , LRG_288t1:c.307+92_307+99dup NP_000229.1:n.307+92_307+99dup
NM_172056.2:c.307+92_307+99dup , LRG_288t2:c.307+92_307+99dup NP_742053.1:n.307+92_307+99dup
XM_011516186.1:c.307+92_307+99dup XP_011514488.1:n.307+92_307+99dup
XM_011516186.3:c.307+92_307+99dup XP_011514488.1:n.307+92_307+99dup
XM_017012196.1:c.130+92_130+99dup XP_016867685.1:n.130+92_130+99dup
NM_000238.4:c.307+92_307+99dup MANE Select NP_000229.1:n.307+92_307+99dup
Search 100 bp 5'
Search 100 bp 3'