Canonical Allele Identifier: CA919780049

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2680769
• ClinVar RCV Id: RCV003475700
• dbSNP Id: rs1567639913

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902284del , CM000679.2:g.4902284del	GRCh38
NC_000017.10:g.4805579del , CM000679.1:g.4805579del	GRCh37
NC_000017.9:g.4746358del	NCBI36
NG_008029.2:g.5796del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*1751del (C17orf107) MANE Select	ENSP00000370770.3:n.*1751del
ENST00000649488.2:c.281del (CHRNE) MANE Select	ENSP00000497829.1:p.Gly94ValfsTer2
ENST00000649830.1:c.-653del (CHRNE)	ENSP00000496907.1:n.-653del
ENST00000293780.4:c.281del (CHRNE)	ENSP00000293780.4:p.Gly94ValfsTer2
ENST00000381365.3:c.*1751del (C17orf107)	ENSP00000370770.3:n.*1751del
ENST00000575637.1:n.102del (CHRNE)
NM_000080.3:c.281del (CHRNE)	NP_000071.1:p.Gly94ValfsTer2
NM_001145536.1:c.*1751del (C17orf107)	NP_001139008.1:n.*1751del
XM_011523612.1:c.546+1778del (C17orf107)	XP_011521914.1:n.546+1778del
XM_011523631.1:c.281del (CHRNE)	XP_011521933.1:p.Gly94ValfsTer2
NM_000080.4:c.281del (CHRNE) MANE Select	NP_000071.1:p.Gly94ValfsTer2
XM_017024115.1:c.245del (CHRNE)	XP_016879604.1:p.Gly82ValfsTer2
XR_001752421.1:n.1126del (CHRNE)
NM_001145536.2:c.*1751del (C17orf107) MANE Select	NP_001139008.1:n.*1751del