Canonical Allele Identifier: CA397307349

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2805043
• ClinVar RCV Id: RCV003641389
• MyVariant Identifiers: chr17:g.4805616C>T (hg19) ; chr17:g.4902321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902321C>T , CM000679.2:g.4902321C>T	GRCh38
NC_000017.10:g.4805616C>T , CM000679.1:g.4805616C>T	GRCh37
NC_000017.9:g.4746395C>T	NCBI36
NG_008029.2:g.5755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1788C>T (C17orf107) MANE Select	ENSP00000370770.3:n.*1788C>T
ENST00000649488.2:c.240G>A (CHRNE) MANE Select	ENSP00000497829.1:p.Trp80Ter
ENST00000649830.1:c.-694G>A (CHRNE)	ENSP00000496907.1:n.-694G>A
ENST00000293780.4:c.240G>A (CHRNE)	ENSP00000293780.4:p.Trp80Ter
ENST00000381365.3:c.*1788C>T (C17orf107)	ENSP00000370770.3:n.*1788C>T
ENST00000575637.1:n.61G>A (CHRNE)
NM_000080.3:c.240G>A (CHRNE)	NP_000071.1:p.Trp80Ter
NM_001145536.1:c.*1788C>T (C17orf107)	NP_001139008.1:n.*1788C>T
XM_011523612.1:c.546+1815C>T (C17orf107)	XP_011521914.1:n.546+1815C>T
XM_011523631.1:c.240G>A (CHRNE)	XP_011521933.1:p.Trp80Ter
NM_000080.4:c.240G>A (CHRNE) MANE Select	NP_000071.1:p.Trp80Ter
XM_017024115.1:c.204G>A (CHRNE)	XP_016879604.1:p.Trp68Ter
XR_001752421.1:n.1085G>A (CHRNE)
NM_001145536.2:c.*1788C>T (C17orf107) MANE Select	NP_001139008.1:n.*1788C>T