Canonical Allele Identifier: CA397300778

Gene: CHRNE C17orf107

Linked Data

• MyVariant Identifiers: chr17:g.4802767C>G (hg19) ; chr17:g.4899472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899472C>G , CM000679.2:g.4899472C>G	GRCh38
NC_000017.10:g.4802767C>G , CM000679.1:g.4802767C>G	GRCh37
NC_000017.9:g.4743546C>G	NCBI36
NG_008029.2:g.8604G>C
NG_028005.1:g.71133C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1028G>C (CHRNE) MANE Select	ENSP00000497829.1:p.Arg343Pro
ENST00000649830.1:c.95G>C (CHRNE)	ENSP00000496907.1:p.Arg32Pro
ENST00000652550.1:n.758G>C (CHRNE)
ENST00000293780.4:c.1028G>C (CHRNE)	ENSP00000293780.4:p.Arg343Pro
ENST00000521575.1:c.-291C>G (C17orf107)	ENSP00000429241.1:n.-291C>G
ENST00000572438.1:n.714G>C (CHRNE)
NM_000080.3:c.1028G>C (CHRNE)	NP_000071.1:p.Arg343Pro
XM_011523612.1:c.-291C>G (C17orf107)	XP_011521914.1:n.-291C>G
NM_000080.4:c.1028G>C (CHRNE) MANE Select	NP_000071.1:p.Arg343Pro
XM_017024115.1:c.992G>C (CHRNE)	XP_016879604.1:p.Arg331Pro
XR_001752421.1:n.1758G>C (CHRNE)