Canonical Allele Identifier: CA2244612751
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4902282C= , CM000679.2:g.4902282C= GRCh38
NC_000017.10:g.4805577C= , CM000679.1:g.4805577C= GRCh37
NC_000017.9:g.4746356C= NCBI36
NG_008029.2:g.5794G=

Transcript Alleles

HGVS Amino-acid change
ENST00000381365.4:c.*1749C= (C17orf107) MANE Select ENSP00000370770.3:n.*1749C=
ENST00000649488.2:c.279G= (CHRNE) MANE Select ENSP00000497829.1:p.Gly93=
ENST00000649830.1:c.-655G= (CHRNE) ENSP00000496907.1:n.-655G=
ENST00000293780.4:c.279G= (CHRNE) ENSP00000293780.4:p.Gly93=
ENST00000381365.3:c.*1749C= (C17orf107) ENSP00000370770.3:n.*1749C=
ENST00000575637.1:n.100G= (CHRNE)
NM_000080.3:c.279G= (CHRNE) NP_000071.1:p.Gly93=
NM_001145536.1:c.*1749C= (C17orf107) NP_001139008.1:n.*1749C=
XM_011523612.1:c.546+1776C= (C17orf107) XP_011521914.1:n.546+1776C=
XM_011523631.1:c.279G= (CHRNE) XP_011521933.1:p.Gly93=
NM_000080.4:c.279G= (CHRNE) MANE Select NP_000071.1:p.Gly93=
XM_017024115.1:c.243G= (CHRNE) XP_016879604.1:p.Gly81=
XR_001752421.1:n.1124G= (CHRNE)
NM_001145536.2:c.*1749C= (C17orf107) MANE Select NP_001139008.1:n.*1749C=