Canonical Allele Identifier: CA497677083

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2997912
• ClinVar RCV Id: RCV003854511
• MyVariant Identifiers: chr17:g.4805589C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902294C>T , CM000679.2:g.4902294C>T	GRCh38
NC_000017.10:g.4805589C>T , CM000679.1:g.4805589C>T	GRCh37
NC_000017.9:g.4746368C>T	NCBI36
NG_008029.2:g.5782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1761C>T (C17orf107) MANE Select	ENSP00000370770.3:n.*1761C>T
ENST00000649488.2:c.267G>A (CHRNE) MANE Select	ENSP00000497829.1:p.Lys89=
ENST00000649830.1:c.-667G>A (CHRNE)	ENSP00000496907.1:n.-667G>A
ENST00000293780.4:c.267G>A (CHRNE)	ENSP00000293780.4:p.Lys89=
ENST00000381365.3:c.*1761C>T (C17orf107)	ENSP00000370770.3:n.*1761C>T
ENST00000575637.1:n.88G>A (CHRNE)
NM_000080.3:c.267G>A (CHRNE)	NP_000071.1:p.Lys89=
NM_001145536.1:c.*1761C>T (C17orf107)	NP_001139008.1:n.*1761C>T
XM_011523612.1:c.546+1788C>T (C17orf107)	XP_011521914.1:n.546+1788C>T
XM_011523631.1:c.267G>A (CHRNE)	XP_011521933.1:p.Lys89=
NM_000080.4:c.267G>A (CHRNE) MANE Select	NP_000071.1:p.Lys89=
XM_017024115.1:c.231G>A (CHRNE)	XP_016879604.1:p.Lys77=
XR_001752421.1:n.1112G>A (CHRNE)
NM_001145536.2:c.*1761C>T (C17orf107) MANE Select	NP_001139008.1:n.*1761C>T