Canonical Allele Identifier: CA2685605656
Gene: KCNH2 HGNC NCBI

Linked Data

gnomAD v4: 7-150975003-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150975005del , CM000669.2:g.150975005del GRCh38
NC_000007.13:g.150672093del , CM000669.1:g.150672093del GRCh37
NC_000007.12:g.150303026del NCBI36
NG_008916.1:g.7923del , LRG_288:g.7923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-63del MANE Select ENSP00000262186.5:n.77-63del
ENST00000262186.9:c.77-63del ENSP00000262186.5:n.77-63del
ENST00000430723.4:c.-101-63del ENSP00000387657.4:n.-101-63del
ENST00000532957.5:n.300-63del
NM_000238.3:c.77-63del , LRG_288t1:c.77-63del NP_000229.1:n.77-63del
NM_172056.2:c.77-63del , LRG_288t2:c.77-63del NP_742053.1:n.77-63del
XM_011516186.1:c.77-63del XP_011514488.1:n.77-63del
XM_011516186.3:c.77-63del XP_011514488.1:n.77-63del
XM_017012196.1:c.-102+21del XP_016867685.1:n.-102+21del
NM_000238.4:c.77-63del MANE Select NP_000229.1:n.77-63del
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