Canonical Allele Identifier: CA2244610985
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899572A= , CM000679.2:g.4899572A= GRCh38
NC_000017.10:g.4802867A= , CM000679.1:g.4802867A= GRCh37
NC_000017.9:g.4743646A= NCBI36
NG_008029.2:g.8504T=
NG_028005.1:g.71233A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.-191A= (C17orf107) MANE Select ENSP00000370770.3:n.-191A=
ENST00000649488.2:c.928T= (CHRNE) MANE Select ENSP00000497829.1:p.Phe310=
ENST00000649830.1:c.-6T= (CHRNE) ENSP00000496907.1:n.-6T=
ENST00000652550.1:n.658T= (CHRNE)
ENST00000293780.4:c.928T= (CHRNE) ENSP00000293780.4:p.Phe310=
ENST00000381365.3:c.-191A= (C17orf107) ENSP00000370770.3:n.-191A=
ENST00000521575.1:c.-191A= (C17orf107) ENSP00000429241.1:n.-191A=
ENST00000572438.1:n.614T= (CHRNE)
NM_000080.3:c.928T= (CHRNE) NP_000071.1:p.Phe310=
XM_011523612.1:c.-191A= (C17orf107) XP_011521914.1:n.-191A=
XM_011523631.1:c.813T= (CHRNE) XP_011521933.1:p.Phe271=
NM_000080.4:c.928T= (CHRNE) MANE Select NP_000071.1:p.Phe310=
XM_017024115.1:c.892T= (CHRNE) XP_016879604.1:p.Phe298=
XR_001752421.1:n.1658T= (CHRNE)
NM_001145536.2:c.-191A= (C17orf107) MANE Select NP_001139008.1:n.-191A=