Canonical Allele Identifier: CA497676007

Gene: CHRNE C17orf107

Linked Data

• MyVariant Identifiers: chr17:g.4802802C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899507C>G , CM000679.2:g.4899507C>G	GRCh38
NC_000017.10:g.4802802C>G , CM000679.1:g.4802802C>G	GRCh37
NC_000017.9:g.4743581C>G	NCBI36
NG_008029.2:g.8569G>C
NG_028005.1:g.71168C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.993G>C (CHRNE) MANE Select	ENSP00000497829.1:p.Arg331=
ENST00000649830.1:c.60G>C (CHRNE)	ENSP00000496907.1:p.Arg20=
ENST00000652550.1:n.723G>C (CHRNE)
ENST00000293780.4:c.993G>C (CHRNE)	ENSP00000293780.4:p.Arg331=
ENST00000521575.1:c.-256C>G (C17orf107)	ENSP00000429241.1:n.-256C>G
ENST00000572438.1:n.679G>C (CHRNE)
NM_000080.3:c.993G>C (CHRNE)	NP_000071.1:p.Arg331=
XM_011523612.1:c.-256C>G (C17orf107)	XP_011521914.1:n.-256C>G
XM_011523631.1:c.*32G>C (CHRNE)	XP_011521933.1:n.*32G>C
NM_000080.4:c.993G>C (CHRNE) MANE Select	NP_000071.1:p.Arg331=
XM_017024115.1:c.957G>C (CHRNE)	XP_016879604.1:p.Arg319=
XR_001752421.1:n.1723G>C (CHRNE)