Canonical Allele Identifier: CA2576135920

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2094237
• ClinVar RCV Id: RCV003021239

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902297del , CM000679.2:g.4902297del	GRCh38
NC_000017.10:g.4805592del , CM000679.1:g.4805592del	GRCh37
NC_000017.9:g.4746371del	NCBI36
NG_008029.2:g.5779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1764del (C17orf107) MANE Select	ENSP00000370770.3:n.*1764del
ENST00000649488.2:c.264del (CHRNE) MANE Select	ENSP00000497829.1:p.Ser88ArgfsTer8
ENST00000649830.1:c.-670del (CHRNE)	ENSP00000496907.1:n.-670del
ENST00000293780.4:c.264del (CHRNE)	ENSP00000293780.4:p.Ser88ArgfsTer8
ENST00000381365.3:c.*1764del (C17orf107)	ENSP00000370770.3:n.*1764del
ENST00000575637.1:n.85del (CHRNE)
NM_000080.3:c.264del (CHRNE)	NP_000071.1:p.Ser88ArgfsTer8
NM_001145536.1:c.*1764del (C17orf107)	NP_001139008.1:n.*1764del
XM_011523612.1:c.546+1791del (C17orf107)	XP_011521914.1:n.546+1791del
XM_011523631.1:c.264del (CHRNE)	XP_011521933.1:p.Ser88ArgfsTer8
NM_000080.4:c.264del (CHRNE) MANE Select	NP_000071.1:p.Ser88ArgfsTer8
XM_017024115.1:c.228del (CHRNE)	XP_016879604.1:p.Ser76ArgfsTer8
XR_001752421.1:n.1109del (CHRNE)
NM_001145536.2:c.*1764del (C17orf107) MANE Select	NP_001139008.1:n.*1764del