Canonical Allele Identifier: CA128058

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4901071G>A , CM000679.2:g.4901071G>A	GRCh38
NC_000017.10:g.4804366G>A , CM000679.1:g.4804366G>A	GRCh37
NC_000017.9:g.4745145G>A	NCBI36
NG_008029.2:g.7005C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000080.4:c.721C>T (CHRNE) MANE Select	NP_000071.1:p.Leu241Phe
NM_001145536.2:c.*538G>A (C17orf107) MANE Select	NP_001139008.1:n.*538G>A
ENST00000381365.4:c.*538G>A (C17orf107) MANE Select	ENSP00000370770.3:n.*538G>A
ENST00000649488.2:c.721C>T (CHRNE) MANE Select	ENSP00000497829.1:p.Leu241Phe
NM_000080.3:c.721C>T (CHRNE)	NP_000071.1:p.Leu241Phe
NM_001145536.1:c.*538G>A (C17orf107)	NP_001139008.1:n.*538G>A
ENST00000293780.4:c.721C>T (CHRNE)	ENSP00000293780.4:p.Leu241Phe
ENST00000381365.3:c.*538G>A (C17orf107)	ENSP00000370770.3:n.*538G>A
ENST00000572438.1:n.407C>T (CHRNE)
ENST00000575637.1:n.495C>T (CHRNE)
ENST00000649830.1:c.-213C>T (CHRNE)	ENSP00000496907.1:n.-213C>T
XM_011523612.1:c.546+565G>A (C17orf107)	XP_011521914.1:n.546+565G>A
XM_011523631.1:c.721C>T (CHRNE)	XP_011521933.1:p.Leu241Phe
XM_017024115.1:c.685C>T (CHRNE)	XP_016879604.1:p.Leu229Phe
XR_001752421.1:n.1566C>T (CHRNE)