Canonical Allele Identifier: CA624855777
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1427320694
gnomAD v2: 17-4802073-GTTGAA-G
gnomAD v4: 17-4898778-GTTGAA-G
MyVariant Identifiers: chr17:g.4802074_4802078del (hg19) chr17:g.4898779_4898783del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898779_4898783del , CM000679.2:g.4898779_4898783del GRCh38
NC_000017.10:g.4802074_4802078del , CM000679.1:g.4802074_4802078del GRCh37
NC_000017.9:g.4742853_4742857del NCBI36
NG_008029.2:g.9293_9297del
NG_028005.1:g.70440_70444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1435_1439del MANE Select ENSP00000497829.1:p.Phe479ProfsTer4
ENST00000649830.1:c.*71_*75del ENSP00000496907.1:n.*71_*75del
ENST00000652550.1:n.1161_1165del
ENST00000293780.4:c.1435_1439del ENSP00000293780.4:p.Phe479ProfsTer4
ENST00000572438.1:n.1121_1125del
NM_000080.3:c.1435_1439del NP_000071.1:p.Phe479ProfsTer4
NM_000080.4:c.1435_1439del MANE Select NP_000071.1:p.Phe479ProfsTer4
XM_017024115.1:c.1399_1403del XP_016879604.1:p.Phe467ProfsTer4
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