Canonical Allele Identifier: CA2635577442
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898743-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898745del , CM000679.2:g.4898745del GRCh38
NC_000017.10:g.4802040del , CM000679.1:g.4802040del GRCh37
NC_000017.9:g.4742819del NCBI36
NG_008029.2:g.9332del
NG_028005.1:g.70406del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1474del MANE Select ENSP00000497829.1:p.Gln492SerfsTer15
ENST00000649830.1:c.*110del ENSP00000496907.1:n.*110del
ENST00000652550.1:n.1200del
ENST00000293780.4:c.1474del ENSP00000293780.4:p.Gln492SerfsTer15
ENST00000572438.1:n.1160del
NM_000080.3:c.1474del NP_000071.1:p.Gln492SerfsTer15
NM_000080.4:c.1474del MANE Select NP_000071.1:p.Gln492SerfsTer15
XM_017024115.1:c.1438del XP_016879604.1:p.Gln480SerfsTer15
Search 100 bp 5'
Search 100 bp 3'