Canonical Allele Identifier: CA2605591416
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v3: 7-150977391-CA-C
gnomAD v4: 7-150977391-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977392del , CM000669.2:g.150977392del GRCh38
NC_000007.13:g.150674480del , CM000669.1:g.150674480del GRCh37
NC_000007.12:g.150305413del NCBI36
NG_008916.1:g.5535del , LRG_288:g.5535del

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.76+446del MANE Select ENSP00000262186.5:n.76+446del
ENST00000262186.9:c.76+446del ENSP00000262186.5:n.76+446del
ENST00000430723.4:c.-102+446del ENSP00000387657.4:n.-102+446del
ENST00000532957.5:n.299+446del
NM_000238.3:c.76+446del , LRG_288t1:c.76+446del NP_000229.1:n.76+446del
NM_172056.2:c.76+446del , LRG_288t2:c.76+446del NP_742053.1:n.76+446del
XM_011516186.1:c.76+446del XP_011514488.1:n.76+446del
XM_011516186.3:c.76+446del XP_011514488.1:n.76+446del
NM_000238.4:c.76+446del MANE Select NP_000229.1:n.76+446del
Search 100 bp 5'
Search 100 bp 3'