Canonical Allele Identifier: CA497675949

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 1143823
• ClinVar RCV Id: RCV001482112
• dbSNP Id: rs2151095114
• MyVariant Identifiers: chr17:g.4802769C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899474C>A , CM000679.2:g.4899474C>A	GRCh38
NC_000017.10:g.4802769C>A , CM000679.1:g.4802769C>A	GRCh37
NC_000017.9:g.4743548C>A	NCBI36
NG_008029.2:g.8602G>T
NG_028005.1:g.71135C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1026G>T (CHRNE) MANE Select	ENSP00000497829.1:p.Leu342=
ENST00000649830.1:c.93G>T (CHRNE)	ENSP00000496907.1:p.Leu31=
ENST00000652550.1:n.756G>T (CHRNE)
ENST00000293780.4:c.1026G>T (CHRNE)	ENSP00000293780.4:p.Leu342=
ENST00000521575.1:c.-289C>A (C17orf107)	ENSP00000429241.1:n.-289C>A
ENST00000572438.1:n.712G>T (CHRNE)
NM_000080.3:c.1026G>T (CHRNE)	NP_000071.1:p.Leu342=
XM_011523612.1:c.-289C>A (C17orf107)	XP_011521914.1:n.-289C>A
NM_000080.4:c.1026G>T (CHRNE) MANE Select	NP_000071.1:p.Leu342=
XM_017024115.1:c.990G>T (CHRNE)	XP_016879604.1:p.Leu330=
XR_001752421.1:n.1756G>T (CHRNE)