Canonical Allele Identifier: CA2635580983

Gene: C17orf107 CHRNE

Linked Data

• gnomAD v4: 17-4900848-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900849dup , CM000679.2:g.4900849dup	GRCh38
NC_000017.10:g.4804144dup , CM000679.1:g.4804144dup	GRCh37
NC_000017.9:g.4744923dup	NCBI36
NG_008029.2:g.7227dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*316dup (C17orf107) MANE Select	ENSP00000370770.3:n.*316dup
ENST00000649488.2:c.861dup (CHRNE) MANE Select	ENSP00000497829.1:p.Phe288ValfsTer?
ENST00000649830.1:c.-73dup (CHRNE)	ENSP00000496907.1:n.-73dup
ENST00000293780.4:c.861dup (CHRNE)	ENSP00000293780.4:p.Phe288ValfsTer?
ENST00000381365.3:c.*316dup (C17orf107)	ENSP00000370770.3:n.*316dup
ENST00000572438.1:n.547dup (CHRNE)
NM_000080.3:c.861dup (CHRNE)	NP_000071.1:p.Phe288ValfsTer?
NM_001145536.1:c.*316dup (C17orf107)	NP_001139008.1:n.*316dup
XM_011523612.1:c.546+343dup (C17orf107)	XP_011521914.1:n.546+343dup
XM_011523631.1:c.802+141dup (CHRNE)	XP_011521933.1:n.802+141dup
NM_000080.4:c.861dup (CHRNE) MANE Select	NP_000071.1:p.Phe288ValfsTer?
XM_017024115.1:c.825dup (CHRNE)	XP_016879604.1:p.Phe276ValfsTer?
XR_001752421.1:n.1647+141dup (CHRNE)
NM_001145536.2:c.*316dup (C17orf107) MANE Select	NP_001139008.1:n.*316dup