Canonical Allele Identifier: CA579075308
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1454139039
gnomAD v2: 7-150672274-TC-T
gnomAD v3: 7-150975186-TC-T
gnomAD v4: 7-150975186-TC-T
MyVariant Identifiers: chr7:g.150672275del (hg19) chr7:g.150975187del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150975191del , CM000669.2:g.150975191del GRCh38
NC_000007.13:g.150672279del , CM000669.1:g.150672279del GRCh37
NC_000007.12:g.150303212del NCBI36
NG_008916.1:g.7740del , LRG_288:g.7740del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.77-246del MANE Select ENSP00000262186.5:n.77-246del
ENST00000262186.9:c.77-246del ENSP00000262186.5:n.77-246del
ENST00000430723.4:c.-101-246del ENSP00000387657.4:n.-101-246del
ENST00000532957.5:n.300-246del
NM_000238.3:c.77-246del , LRG_288t1:c.77-246del NP_000229.1:n.77-246del
NM_172056.2:c.77-246del , LRG_288t2:c.77-246del NP_742053.1:n.77-246del
XM_011516186.1:c.77-246del XP_011514488.1:n.77-246del
XM_011516186.3:c.77-246del XP_011514488.1:n.77-246del
NM_000238.4:c.77-246del MANE Select NP_000229.1:n.77-246del
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