Canonical Allele Identifier: CA2580093578

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2131088
• ClinVar RCV Id: RCV003048033

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902268dup , CM000679.2:g.4902268dup	GRCh38
NC_000017.10:g.4805563dup , CM000679.1:g.4805563dup	GRCh37
NC_000017.9:g.4746342dup	NCBI36
NG_008029.2:g.5808dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*1735dup (C17orf107) MANE Select	ENSP00000370770.3:n.*1735dup
ENST00000649488.2:c.293dup (CHRNE) MANE Select	ENSP00000497829.1:p.Arg99AlafsTer19
ENST00000649830.1:c.-641dup (CHRNE)	ENSP00000496907.1:n.-641dup
ENST00000293780.4:c.293dup (CHRNE)	ENSP00000293780.4:p.Arg99AlafsTer19
ENST00000381365.3:c.*1735dup (C17orf107)	ENSP00000370770.3:n.*1735dup
ENST00000575637.1:n.114dup (CHRNE)
NM_000080.3:c.293dup (CHRNE)	NP_000071.1:p.Arg99AlafsTer19
NM_001145536.1:c.*1735dup (C17orf107)	NP_001139008.1:n.*1735dup
XM_011523612.1:c.546+1762dup (C17orf107)	XP_011521914.1:n.546+1762dup
XM_011523631.1:c.293dup (CHRNE)	XP_011521933.1:p.Arg99AlafsTer19
NM_000080.4:c.293dup (CHRNE) MANE Select	NP_000071.1:p.Arg99AlafsTer19
XM_017024115.1:c.257dup (CHRNE)	XP_016879604.1:p.Arg87AlafsTer19
XR_001752421.1:n.1138dup (CHRNE)
NM_001145536.2:c.*1735dup (C17orf107) MANE Select	NP_001139008.1:n.*1735dup