Canonical Allele Identifier: CA2244611794
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900849C= , CM000679.2:g.4900849C= GRCh38
NC_000017.10:g.4804144C= , CM000679.1:g.4804144C= GRCh37
NC_000017.9:g.4744923C= NCBI36
NG_008029.2:g.7227G=

Transcript Alleles

HGVS Amino-acid change
ENST00000381365.4:c.*316C= (C17orf107) MANE Select ENSP00000370770.3:n.*316C=
ENST00000649488.2:c.861G= (CHRNE) MANE Select ENSP00000497829.1:p.Leu287=
ENST00000649830.1:c.-73G= (CHRNE) ENSP00000496907.1:n.-73G=
ENST00000293780.4:c.861G= (CHRNE) ENSP00000293780.4:p.Leu287=
ENST00000381365.3:c.*316C= (C17orf107) ENSP00000370770.3:n.*316C=
ENST00000572438.1:n.547G= (CHRNE)
NM_000080.3:c.861G= (CHRNE) NP_000071.1:p.Leu287=
NM_001145536.1:c.*316C= (C17orf107) NP_001139008.1:n.*316C=
XM_011523612.1:c.546+343C= (C17orf107) XP_011521914.1:n.546+343C=
XM_011523631.1:c.802+141G= (CHRNE) XP_011521933.1:n.802+141G=
NM_000080.4:c.861G= (CHRNE) MANE Select NP_000071.1:p.Leu287=
XM_017024115.1:c.825G= (CHRNE) XP_016879604.1:p.Leu275=
XR_001752421.1:n.1647+141G= (CHRNE)
NM_001145536.2:c.*316C= (C17orf107) MANE Select NP_001139008.1:n.*316C=