Canonical Allele Identifier: CA397300895

Gene: CHRNE C17orf107

Linked Data

• MyVariant Identifiers: chr17:g.4802804G>C (hg19) ; chr17:g.4899509G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899509G>C , CM000679.2:g.4899509G>C	GRCh38
NC_000017.10:g.4802804G>C , CM000679.1:g.4802804G>C	GRCh37
NC_000017.9:g.4743583G>C	NCBI36
NG_008029.2:g.8567C>G
NG_028005.1:g.71170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.991C>G (CHRNE) MANE Select	ENSP00000497829.1:p.Arg331Gly
ENST00000649830.1:c.58C>G (CHRNE)	ENSP00000496907.1:p.Arg20Gly
ENST00000652550.1:n.721C>G (CHRNE)
ENST00000293780.4:c.991C>G (CHRNE)	ENSP00000293780.4:p.Arg331Gly
ENST00000521575.1:c.-254G>C (C17orf107)	ENSP00000429241.1:n.-254G>C
ENST00000572438.1:n.677C>G (CHRNE)
NM_000080.3:c.991C>G (CHRNE)	NP_000071.1:p.Arg331Gly
XM_011523612.1:c.-254G>C (C17orf107)	XP_011521914.1:n.-254G>C
XM_011523631.1:c.*30C>G (CHRNE)	XP_011521933.1:n.*30C>G
NM_000080.4:c.991C>G (CHRNE) MANE Select	NP_000071.1:p.Arg331Gly
XM_017024115.1:c.955C>G (CHRNE)	XP_016879604.1:p.Arg319Gly
XR_001752421.1:n.1721C>G (CHRNE)