Canonical Allele Identifier: CA497676841

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4901051G>A , CM000679.2:g.4901051G>A	GRCh38
NC_000017.10:g.4804346G>A , CM000679.1:g.4804346G>A	GRCh37
NC_000017.9:g.4745125G>A	NCBI36
NG_008029.2:g.7025C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000080.4:c.741C>T (CHRNE) MANE Select	NP_000071.1:p.Ile247=
NM_001145536.2:c.*518G>A (C17orf107) MANE Select	NP_001139008.1:n.*518G>A
ENST00000381365.4:c.*518G>A (C17orf107) MANE Select	ENSP00000370770.3:n.*518G>A
ENST00000649488.2:c.741C>T (CHRNE) MANE Select	ENSP00000497829.1:p.Ile247=
NM_000080.3:c.741C>T (CHRNE)	NP_000071.1:p.Ile247=
NM_001145536.1:c.*518G>A (C17orf107)	NP_001139008.1:n.*518G>A
ENST00000293780.4:c.741C>T (CHRNE)	ENSP00000293780.4:p.Ile247=
ENST00000381365.3:c.*518G>A (C17orf107)	ENSP00000370770.3:n.*518G>A
ENST00000572438.1:n.427C>T (CHRNE)
ENST00000575637.1:n.515C>T (CHRNE)
ENST00000649830.1:c.-193C>T (CHRNE)	ENSP00000496907.1:n.-193C>T
XM_011523612.1:c.546+545G>A (C17orf107)	XP_011521914.1:n.546+545G>A
XM_011523631.1:c.741C>T (CHRNE)	XP_011521933.1:p.Ile247=
XM_017024115.1:c.705C>T (CHRNE)	XP_016879604.1:p.Ile235=
XR_001752421.1:n.1586C>T (CHRNE)