Canonical Allele Identifier: CA2635577445
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898749-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898750del , CM000679.2:g.4898750del GRCh38
NC_000017.10:g.4802045del , CM000679.1:g.4802045del GRCh37
NC_000017.9:g.4742824del NCBI36
NG_008029.2:g.9326del
NG_028005.1:g.70411del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1468del MANE Select ENSP00000497829.1:p.Cys490ValfsTer17
ENST00000649830.1:c.*104del ENSP00000496907.1:n.*104del
ENST00000652550.1:n.1194del
ENST00000293780.4:c.1468del ENSP00000293780.4:p.Cys490ValfsTer17
ENST00000572438.1:n.1154del
NM_000080.3:c.1468del NP_000071.1:p.Cys490ValfsTer17
NM_000080.4:c.1468del MANE Select NP_000071.1:p.Cys490ValfsTer17
XM_017024115.1:c.1432del XP_016879604.1:p.Cys478ValfsTer17
Search 100 bp 5'
Search 100 bp 3'