Canonical Allele Identifier: CA497675944

Gene: CHRNE C17orf107

Linked Data

• MyVariant Identifiers: chr17:g.4802766G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899471G>C , CM000679.2:g.4899471G>C	GRCh38
NC_000017.10:g.4802766G>C , CM000679.1:g.4802766G>C	GRCh37
NC_000017.9:g.4743545G>C	NCBI36
NG_008029.2:g.8605C>G
NG_028005.1:g.71132G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1029C>G (CHRNE) MANE Select	ENSP00000497829.1:p.Arg343=
ENST00000649830.1:c.96C>G (CHRNE)	ENSP00000496907.1:p.Arg32=
ENST00000652550.1:n.759C>G (CHRNE)
ENST00000293780.4:c.1029C>G (CHRNE)	ENSP00000293780.4:p.Arg343=
ENST00000521575.1:c.-292G>C (C17orf107)	ENSP00000429241.1:n.-292G>C
ENST00000572438.1:n.715C>G (CHRNE)
NM_000080.3:c.1029C>G (CHRNE)	NP_000071.1:p.Arg343=
XM_011523612.1:c.-292G>C (C17orf107)	XP_011521914.1:n.-292G>C
NM_000080.4:c.1029C>G (CHRNE) MANE Select	NP_000071.1:p.Arg343=
XM_017024115.1:c.993C>G (CHRNE)	XP_016879604.1:p.Arg331=
XR_001752421.1:n.1759C>G (CHRNE)