Canonical Allele Identifier: CA624855776
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1251532749

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1474dup MANE Select ENSP00000497829.1:p.Gln492ProfsTer23
ENST00000649830.1:c.*110dup ENSP00000496907.1:n.*110dup
ENST00000652550.1:n.1200dup
ENST00000293780.4:c.1474dup ENSP00000293780.4:p.Gln492ProfsTer23
ENST00000572438.1:n.1160dup
NM_000080.3:c.1474dup NP_000071.1:p.Gln492ProfsTer23
NM_000080.4:c.1474dup MANE Select NP_000071.1:p.Gln492ProfsTer23
XM_017024115.1:c.1438dup XP_016879604.1:p.Gln480ProfsTer23