Canonical Allele Identifier: CA2244610941
Community Standard Title: NM_000080.4(CHRNE):c.991C= (p.Arg331=)
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899509G= , CM000679.2:g.4899509G= GRCh38
NC_000017.10:g.4802804G= , CM000679.1:g.4802804G= GRCh37
NC_000017.9:g.4743583G= NCBI36
NG_008029.2:g.8567C=
NG_028005.1:g.71170G=

Transcript Alleles

HGVS Amino-acid Change
NM_000080.4:c.991C= (CHRNE) MANE Select NP_000071.1:p.Arg331=
ENST00000649488.2:c.991C= (CHRNE) MANE Select ENSP00000497829.1:p.Arg331=
NM_000080.3:c.991C= (CHRNE) NP_000071.1:p.Arg331=
ENST00000293780.4:c.991C= (CHRNE) ENSP00000293780.4:p.Arg331=
ENST00000521575.1:c.-254G= (C17orf107) ENSP00000429241.1:n.-254G=
ENST00000572438.1:n.677C= (CHRNE)
ENST00000649830.1:c.58C= (CHRNE) ENSP00000496907.1:p.Arg20=
ENST00000652550.1:n.721C= (CHRNE)
XM_011523612.1:c.-254G= (C17orf107) XP_011521914.1:n.-254G=
XM_011523631.1:c.*30C= (CHRNE) XP_011521933.1:n.*30C=
XM_017024115.1:c.955C= (CHRNE) XP_016879604.1:p.Arg319=
XR_001752421.1:n.1721C= (CHRNE)