Canonical Allele Identifier: CA2244612856
Community Standard Title: NM_000080.4(CHRNE):c.223T= (p.Trp75=)
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4902461A= , CM000679.2:g.4902461A= GRCh38
NC_000017.10:g.4805756A= , CM000679.1:g.4805756A= GRCh37
NC_000017.9:g.4746535A= NCBI36
NG_008029.2:g.5615T=

Transcript Alleles

HGVS Amino-acid Change
NM_000080.4:c.223T= (CHRNE) MANE Select NP_000071.1:p.Trp75=
NM_001145536.2:c.*1928A= (C17orf107) MANE Select NP_001139008.1:n.*1928A=
ENST00000381365.4:c.*1928A= (C17orf107) MANE Select ENSP00000370770.3:n.*1928A=
ENST00000649488.2:c.223T= (CHRNE) MANE Select ENSP00000497829.1:p.Trp75=
NM_000080.3:c.223T= (CHRNE) NP_000071.1:p.Trp75=
NM_001145536.1:c.*1928A= (C17orf107) NP_001139008.1:n.*1928A=
ENST00000293780.4:c.223T= (CHRNE) ENSP00000293780.4:p.Trp75=
ENST00000381365.3:c.*1928A= (C17orf107) ENSP00000370770.3:n.*1928A=
ENST00000575637.1:n.44T= (CHRNE)
ENST00000649830.1:c.-711T= (CHRNE) ENSP00000496907.1:n.-711T=
XM_011523612.1:c.546+1955A= (C17orf107) XP_011521914.1:n.546+1955A=
XM_011523631.1:c.223T= (CHRNE) XP_011521933.1:p.Trp75=
XM_017024115.1:c.187T= (CHRNE) XP_016879604.1:p.Trp63=
XR_001752421.1:n.1068T= (CHRNE)