Canonical Allele Identifier: CA497676119

Gene: C17orf107 CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802868A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899573A>G , CM000679.2:g.4899573A>G	GRCh38
NC_000017.10:g.4802868A>G , CM000679.1:g.4802868A>G	GRCh37
NC_000017.9:g.4743647A>G	NCBI36
NG_008029.2:g.8503T>C
NG_028005.1:g.71234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-190A>G (C17orf107) MANE Select	ENSP00000370770.3:n.-190A>G
ENST00000649488.2:c.927T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Ile309=
ENST00000649830.1:c.-7T>C (CHRNE)	ENSP00000496907.1:n.-7T>C
ENST00000652550.1:n.657T>C (CHRNE)
ENST00000293780.4:c.927T>C (CHRNE)	ENSP00000293780.4:p.Ile309=
ENST00000381365.3:c.-190A>G (C17orf107)	ENSP00000370770.3:n.-190A>G
ENST00000521575.1:c.-190A>G (C17orf107)	ENSP00000429241.1:n.-190A>G
ENST00000572438.1:n.613T>C (CHRNE)
NM_000080.3:c.927T>C (CHRNE)	NP_000071.1:p.Ile309=
XM_011523612.1:c.-190A>G (C17orf107)	XP_011521914.1:n.-190A>G
XM_011523631.1:c.812T>C (CHRNE)	XP_011521933.1:p.Phe271Ser
NM_000080.4:c.927T>C (CHRNE) MANE Select	NP_000071.1:p.Ile309=
XM_017024115.1:c.891T>C (CHRNE)	XP_016879604.1:p.Ile297=
XR_001752421.1:n.1657T>C (CHRNE)
NM_001145536.2:c.-190A>G (C17orf107) MANE Select	NP_001139008.1:n.-190A>G