Canonical Allele Identifier: CA2244612744
Community Standard Title: NM_000080.4(CHRNE):c.293T= (p.Leu98=)
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4902268A= , CM000679.2:g.4902268A= GRCh38
NC_000017.10:g.4805563A= , CM000679.1:g.4805563A= GRCh37
NC_000017.9:g.4746342A= NCBI36
NG_008029.2:g.5808T=

Transcript Alleles

HGVS Amino-acid Change
NM_000080.4:c.293T= (CHRNE) MANE Select NP_000071.1:p.Leu98=
NM_001145536.2:c.*1735A= (C17orf107) MANE Select NP_001139008.1:n.*1735A=
ENST00000381365.4:c.*1735A= (C17orf107) MANE Select ENSP00000370770.3:n.*1735A=
ENST00000649488.2:c.293T= (CHRNE) MANE Select ENSP00000497829.1:p.Leu98=
NM_000080.3:c.293T= (CHRNE) NP_000071.1:p.Leu98=
NM_001145536.1:c.*1735A= (C17orf107) NP_001139008.1:n.*1735A=
ENST00000293780.4:c.293T= (CHRNE) ENSP00000293780.4:p.Leu98=
ENST00000381365.3:c.*1735A= (C17orf107) ENSP00000370770.3:n.*1735A=
ENST00000575637.1:n.114T= (CHRNE)
ENST00000649830.1:c.-641T= (CHRNE) ENSP00000496907.1:n.-641T=
XM_011523612.1:c.546+1762A= (C17orf107) XP_011521914.1:n.546+1762A=
XM_011523631.1:c.293T= (CHRNE) XP_011521933.1:p.Leu98=
XM_017024115.1:c.257T= (CHRNE) XP_016879604.1:p.Leu86=
XR_001752421.1:n.1138T= (CHRNE)