Canonical Allele Identifier: CA2685603726
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150974650-CCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974656_150974688del , CM000669.2:g.150974656_150974688del GRCh38
NC_000007.13:g.150671744_150671776del , CM000669.1:g.150671744_150671776del GRCh37
NC_000007.12:g.150302677_150302709del NCBI36
NG_008916.1:g.8244_8276del , LRG_288:g.8244_8276del

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.307+28_307+60del MANE Select ENSP00000262186.5:n.307+28_307+60del
ENST00000262186.9:c.307+28_307+60del ENSP00000262186.5:n.307+28_307+60del
ENST00000430723.4:c.130+28_130+60del ENSP00000387657.4:n.130+28_130+60del
ENST00000532957.5:n.530+28_530+60del
NM_000238.3:c.307+28_307+60del , LRG_288t1:c.307+28_307+60del NP_000229.1:n.307+28_307+60del
NM_172056.2:c.307+28_307+60del , LRG_288t2:c.307+28_307+60del NP_742053.1:n.307+28_307+60del
XM_011516186.1:c.307+28_307+60del XP_011514488.1:n.307+28_307+60del
XM_011516186.3:c.307+28_307+60del XP_011514488.1:n.307+28_307+60del
XM_017012196.1:c.130+28_130+60del XP_016867685.1:n.130+28_130+60del
NM_000238.4:c.307+28_307+60del MANE Select NP_000229.1:n.307+28_307+60del
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