Canonical Allele Identifier: CA2244611800
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900854A= , CM000679.2:g.4900854A= GRCh38
NC_000017.10:g.4804149A= , CM000679.1:g.4804149A= GRCh37
NC_000017.9:g.4744928A= NCBI36
NG_008029.2:g.7222T=

Transcript Alleles

HGVS Amino-acid change
ENST00000381365.4:c.*321A= (C17orf107) MANE Select ENSP00000370770.3:n.*321A=
ENST00000649488.2:c.856T= (CHRNE) MANE Select ENSP00000497829.1:p.Phe286=
ENST00000649830.1:c.-78T= (CHRNE) ENSP00000496907.1:n.-78T=
ENST00000293780.4:c.856T= (CHRNE) ENSP00000293780.4:p.Phe286=
ENST00000381365.3:c.*321A= (C17orf107) ENSP00000370770.3:n.*321A=
ENST00000572438.1:n.542T= (CHRNE)
NM_000080.3:c.856T= (CHRNE) NP_000071.1:p.Phe286=
NM_001145536.1:c.*321A= (C17orf107) NP_001139008.1:n.*321A=
XM_011523612.1:c.546+348A= (C17orf107) XP_011521914.1:n.546+348A=
XM_011523631.1:c.802+136T= (CHRNE) XP_011521933.1:n.802+136T=
NM_000080.4:c.856T= (CHRNE) MANE Select NP_000071.1:p.Phe286=
XM_017024115.1:c.820T= (CHRNE) XP_016879604.1:p.Phe274=
XR_001752421.1:n.1647+136T= (CHRNE)
NM_001145536.2:c.*321A= (C17orf107) MANE Select NP_001139008.1:n.*321A=