Canonical Allele Identifier: CA2244610942
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899511T= , CM000679.2:g.4899511T= GRCh38
NC_000017.10:g.4802806T= , CM000679.1:g.4802806T= GRCh37
NC_000017.9:g.4743585T= NCBI36
NG_008029.2:g.8565A=
NG_028005.1:g.71172T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.989A= (CHRNE) MANE Select ENSP00000497829.1:p.Gln330=
ENST00000649830.1:c.56A= (CHRNE) ENSP00000496907.1:p.Gln19=
ENST00000652550.1:n.719A= (CHRNE)
ENST00000293780.4:c.989A= (CHRNE) ENSP00000293780.4:p.Gln330=
ENST00000521575.1:c.-252T= (C17orf107) ENSP00000429241.1:n.-252T=
ENST00000572438.1:n.675A= (CHRNE)
NM_000080.3:c.989A= (CHRNE) NP_000071.1:p.Gln330=
XM_011523612.1:c.-252T= (C17orf107) XP_011521914.1:n.-252T=
XM_011523631.1:c.*28A= (CHRNE) XP_011521933.1:n.*28A=
NM_000080.4:c.989A= (CHRNE) MANE Select NP_000071.1:p.Gln330=
XM_017024115.1:c.953A= (CHRNE) XP_016879604.1:p.Gln318=
XR_001752421.1:n.1719A= (CHRNE)