Canonical Allele Identifier: CA2244610969
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899547A= , CM000679.2:g.4899547A= GRCh38
NC_000017.10:g.4802842A= , CM000679.1:g.4802842A= GRCh37
NC_000017.9:g.4743621A= NCBI36
NG_008029.2:g.8529T=
NG_028005.1:g.71208A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.-216A= (C17orf107) MANE Select ENSP00000370770.3:n.-216A=
ENST00000649488.2:c.953T= (CHRNE) MANE Select ENSP00000497829.1:p.Ile318=
ENST00000649830.1:c.20T= (CHRNE) ENSP00000496907.1:p.Ile7=
ENST00000652550.1:n.683T= (CHRNE)
ENST00000293780.4:c.953T= (CHRNE) ENSP00000293780.4:p.Ile318=
ENST00000381365.3:c.-216A= (C17orf107) ENSP00000370770.3:n.-216A=
ENST00000521575.1:c.-216A= (C17orf107) ENSP00000429241.1:n.-216A=
ENST00000572438.1:n.639T= (CHRNE)
NM_000080.3:c.953T= (CHRNE) NP_000071.1:p.Ile318=
XM_011523612.1:c.-216A= (C17orf107) XP_011521914.1:n.-216A=
XM_011523631.1:c.838T= (CHRNE) XP_011521933.1:p.Leu280=
NM_000080.4:c.953T= (CHRNE) MANE Select NP_000071.1:p.Ile318=
XM_017024115.1:c.917T= (CHRNE) XP_016879604.1:p.Ile306=
XR_001752421.1:n.1683T= (CHRNE)
NM_001145536.2:c.-216A= (C17orf107) MANE Select NP_001139008.1:n.-216A=