Canonical Allele Identifier: CA835213544
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1181612760
gnomAD v3: 7-150974656-T-TCCCGCCCCTCTTGAC
gnomAD v4: 7-150974656-T-TCCCGCCCCTCTTGAC
MyVariant Identifiers: chr7:g.150671744_150671745insCCCGCCCCTCTTGAC (hg19) chr7:g.150974656_150974657insCCCGCCCCTCTTGAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974666_150974680dup , CM000669.2:g.150974666_150974680dup GRCh38
NC_000007.13:g.150671754_150671768dup , CM000669.1:g.150671754_150671768dup GRCh37
NC_000007.12:g.150302687_150302701dup NCBI36
NG_008916.1:g.8256_8270dup , LRG_288:g.8256_8270dup

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.307+40_307+54dup MANE Select ENSP00000262186.5:n.307+40_307+54dup
ENST00000262186.9:c.307+40_307+54dup ENSP00000262186.5:n.307+40_307+54dup
ENST00000430723.4:c.130+40_130+54dup ENSP00000387657.4:n.130+40_130+54dup
ENST00000532957.5:n.530+40_530+54dup
NM_000238.3:c.307+40_307+54dup , LRG_288t1:c.307+40_307+54dup NP_000229.1:n.307+40_307+54dup
NM_172056.2:c.307+40_307+54dup , LRG_288t2:c.307+40_307+54dup NP_742053.1:n.307+40_307+54dup
XM_011516186.1:c.307+40_307+54dup XP_011514488.1:n.307+40_307+54dup
XM_011516186.3:c.307+40_307+54dup XP_011514488.1:n.307+40_307+54dup
XM_017012196.1:c.130+40_130+54dup XP_016867685.1:n.130+40_130+54dup
NM_000238.4:c.307+40_307+54dup MANE Select NP_000229.1:n.307+40_307+54dup
Search 100 bp 5'
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