Canonical Allele Identifier: CA2576135820

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900777G>T , CM000679.2:g.4900777G>T	GRCh38
NC_000017.10:g.4804072G>T , CM000679.1:g.4804072G>T	GRCh37
NC_000017.9:g.4744851G>T	NCBI36
NG_008029.2:g.7299C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*244G>T (C17orf107) MANE Select	ENSP00000370770.3:n.*244G>T
ENST00000649488.2:c.917+16C>A (CHRNE) MANE Select	ENSP00000497829.1:n.917+16C>A
ENST00000649830.1:c.-17+16C>A (CHRNE)	ENSP00000496907.1:n.-17+16C>A
ENST00000293780.4:c.917+16C>A (CHRNE)	ENSP00000293780.4:n.917+16C>A
ENST00000381365.3:c.*244G>T (C17orf107)	ENSP00000370770.3:n.*244G>T
ENST00000521575.1:c.*611G>T (C17orf107)	ENSP00000429241.1:n.*611G>T
ENST00000572438.1:n.603+16C>A (CHRNE)
NM_000080.3:c.917+16C>A (CHRNE)	NP_000071.1:n.917+16C>A
NM_001145536.1:c.*244G>T (C17orf107)	NP_001139008.1:n.*244G>T
XM_011523612.1:c.546+271G>T (C17orf107)	XP_011521914.1:n.546+271G>T
XM_011523631.1:c.802+213C>A (CHRNE)	XP_011521933.1:n.802+213C>A
NM_000080.4:c.917+16C>A (CHRNE) MANE Select	NP_000071.1:n.917+16C>A
XM_017024115.1:c.881+16C>A (CHRNE)	XP_016879604.1:n.881+16C>A
XR_001752421.1:n.1647+213C>A (CHRNE)
NM_001145536.2:c.*244G>T (C17orf107) MANE Select	NP_001139008.1:n.*244G>T