Canonical Allele Identifier: CA624855778
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1322081
ClinVar RCV Id: RCV001780501 RCV002482305 RCV003470898
dbSNP Id: rs1396286715
gnomAD v2: 17-4802083-GC-G
gnomAD v3: 17-4898788-GC-G
gnomAD v4: 17-4898788-GC-G
MyVariant Identifiers: chr17:g.4802084del (hg19) chr17:g.4898789del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898792del , CM000679.2:g.4898792del GRCh38
NC_000017.10:g.4802087del , CM000679.1:g.4802087del GRCh37
NC_000017.9:g.4742866del NCBI36
NG_008029.2:g.9287del
NG_028005.1:g.70453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1429del MANE Select ENSP00000497829.1:p.Ala477ProfsTer30
ENST00000649830.1:c.*65del ENSP00000496907.1:n.*65del
ENST00000652550.1:n.1155del
ENST00000293780.4:c.1429del ENSP00000293780.4:p.Ala477ProfsTer30
ENST00000572438.1:n.1115del
NM_000080.3:c.1429del NP_000071.1:p.Ala477ProfsTer30
NM_000080.4:c.1429del MANE Select NP_000071.1:p.Ala477ProfsTer30
XM_017024115.1:c.1393del XP_016879604.1:p.Ala465ProfsTer30
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