Canonical Allele Identifier: CA397300783

Gene: CHRNE C17orf107

Linked Data

• MyVariant Identifiers: chr17:g.4802768G>C (hg19) ; chr17:g.4899473G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899473G>C , CM000679.2:g.4899473G>C	GRCh38
NC_000017.10:g.4802768G>C , CM000679.1:g.4802768G>C	GRCh37
NC_000017.9:g.4743547G>C	NCBI36
NG_008029.2:g.8603C>G
NG_028005.1:g.71134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1027C>G (CHRNE) MANE Select	ENSP00000497829.1:p.Arg343Gly
ENST00000649830.1:c.94C>G (CHRNE)	ENSP00000496907.1:p.Arg32Gly
ENST00000652550.1:n.757C>G (CHRNE)
ENST00000293780.4:c.1027C>G (CHRNE)	ENSP00000293780.4:p.Arg343Gly
ENST00000521575.1:c.-290G>C (C17orf107)	ENSP00000429241.1:n.-290G>C
ENST00000572438.1:n.713C>G (CHRNE)
NM_000080.3:c.1027C>G (CHRNE)	NP_000071.1:p.Arg343Gly
XM_011523612.1:c.-290G>C (C17orf107)	XP_011521914.1:n.-290G>C
NM_000080.4:c.1027C>G (CHRNE) MANE Select	NP_000071.1:p.Arg343Gly
XM_017024115.1:c.991C>G (CHRNE)	XP_016879604.1:p.Arg331Gly
XR_001752421.1:n.1757C>G (CHRNE)