Canonical Allele Identifier: CA772622490
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2419262
ClinVar RCV Id: RCV003112506
dbSNP Id: rs1293466716
MyVariant Identifiers: chr17:g.4801983_4802032del (hg19) chr17:g.4898688_4898737del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898690_4898739del , CM000679.2:g.4898690_4898739del GRCh38
NC_000017.10:g.4801985_4802034del , CM000679.1:g.4801985_4802034del GRCh37
NC_000017.9:g.4742764_4742813del NCBI36
NG_008029.2:g.9339_9388del
NG_028005.1:g.70351_70400del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1481_*48del MANE Select ENSP00000497829.1:n.[c.1481_*48del;Ter494LeuextTer4]
ENST00000649830.1:c.*117_*166del ENSP00000496907.1:n.*117_*166del
ENST00000652550.1:n.1207_1256del
ENST00000293780.4:c.1481_*48del ENSP00000293780.4:n.[c.1481_*48del;Ter494LeuextTer4]
ENST00000572438.1:n.1167_1216del
NM_000080.3:c.1481_*48del NP_000071.1:n.[c.1481_*48del;Ter494LeuextTer4]
NM_000080.4:c.1481_*48del MANE Select NP_000071.1:n.[c.1481_*48del;Ter494LeuextTer4]
XM_017024115.1:c.1445_*48del XP_016879604.1:n.[c.1445_*48del;Ter482LeuextTer4]
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