Canonical Allele Identifier: CA497677014

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2699879
• ClinVar RCV Id: RCV003525566
• MyVariant Identifiers: chr17:g.4805562C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902267C>A , CM000679.2:g.4902267C>A	GRCh38
NC_000017.10:g.4805562C>A , CM000679.1:g.4805562C>A	GRCh37
NC_000017.9:g.4746341C>A	NCBI36
NG_008029.2:g.5809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1734C>A (C17orf107) MANE Select	ENSP00000370770.3:n.*1734C>A
ENST00000649488.2:c.294G>T (CHRNE) MANE Select	ENSP00000497829.1:p.Leu98=
ENST00000649830.1:c.-640G>T (CHRNE)	ENSP00000496907.1:n.-640G>T
ENST00000293780.4:c.294G>T (CHRNE)	ENSP00000293780.4:p.Leu98=
ENST00000381365.3:c.*1734C>A (C17orf107)	ENSP00000370770.3:n.*1734C>A
ENST00000575637.1:n.115G>T (CHRNE)
NM_000080.3:c.294G>T (CHRNE)	NP_000071.1:p.Leu98=
NM_001145536.1:c.*1734C>A (C17orf107)	NP_001139008.1:n.*1734C>A
XM_011523612.1:c.546+1761C>A (C17orf107)	XP_011521914.1:n.546+1761C>A
XM_011523631.1:c.294G>T (CHRNE)	XP_011521933.1:p.Leu98=
NM_000080.4:c.294G>T (CHRNE) MANE Select	NP_000071.1:p.Leu98=
XM_017024115.1:c.258G>T (CHRNE)	XP_016879604.1:p.Leu86=
XR_001752421.1:n.1139G>T (CHRNE)
NM_001145536.2:c.*1734C>A (C17orf107) MANE Select	NP_001139008.1:n.*1734C>A