Canonical Allele Identifier: CA2244611796

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900851A= , CM000679.2:g.4900851A=	GRCh38
NC_000017.10:g.4804146A= , CM000679.1:g.4804146A=	GRCh37
NC_000017.9:g.4744925A=	NCBI36
NG_008029.2:g.7225T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*318A= (C17orf107) MANE Select	ENSP00000370770.3:n.*318A=
ENST00000649488.2:c.859T= (CHRNE) MANE Select	ENSP00000497829.1:p.Leu287=
ENST00000649830.1:c.-75T= (CHRNE)	ENSP00000496907.1:n.-75T=
ENST00000293780.4:c.859T= (CHRNE)	ENSP00000293780.4:p.Leu287=
ENST00000381365.3:c.*318A= (C17orf107)	ENSP00000370770.3:n.*318A=
ENST00000572438.1:n.545T= (CHRNE)
NM_000080.3:c.859T= (CHRNE)	NP_000071.1:p.Leu287=
NM_001145536.1:c.*318A= (C17orf107)	NP_001139008.1:n.*318A=
XM_011523612.1:c.546+345A= (C17orf107)	XP_011521914.1:n.546+345A=
XM_011523631.1:c.802+139T= (CHRNE)	XP_011521933.1:n.802+139T=
NM_000080.4:c.859T= (CHRNE) MANE Select	NP_000071.1:p.Leu287=
XM_017024115.1:c.823T= (CHRNE)	XP_016879604.1:p.Leu275=
XR_001752421.1:n.1647+139T= (CHRNE)
NM_001145536.2:c.*318A= (C17orf107) MANE Select	NP_001139008.1:n.*318A=