Canonical Allele Identifier: CA397301039

Gene: C17orf107 CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802843T>A (hg19) ; chr17:g.4899548T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899548T>A , CM000679.2:g.4899548T>A	GRCh38
NC_000017.10:g.4802843T>A , CM000679.1:g.4802843T>A	GRCh37
NC_000017.9:g.4743622T>A	NCBI36
NG_008029.2:g.8528A>T
NG_028005.1:g.71209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-215T>A (C17orf107) MANE Select	ENSP00000370770.3:n.-215T>A
ENST00000649488.2:c.952A>T (CHRNE) MANE Select	ENSP00000497829.1:p.Ile318Phe
ENST00000649830.1:c.19A>T (CHRNE)	ENSP00000496907.1:p.Ile7Phe
ENST00000652550.1:n.682A>T (CHRNE)
ENST00000293780.4:c.952A>T (CHRNE)	ENSP00000293780.4:p.Ile318Phe
ENST00000381365.3:c.-215T>A (C17orf107)	ENSP00000370770.3:n.-215T>A
ENST00000521575.1:c.-215T>A (C17orf107)	ENSP00000429241.1:n.-215T>A
ENST00000572438.1:n.638A>T (CHRNE)
NM_000080.3:c.952A>T (CHRNE)	NP_000071.1:p.Ile318Phe
XM_011523612.1:c.-215T>A (C17orf107)	XP_011521914.1:n.-215T>A
XM_011523631.1:c.837A>T (CHRNE)	XP_011521933.1:p.Ser279=
NM_000080.4:c.952A>T (CHRNE) MANE Select	NP_000071.1:p.Ile318Phe
XM_017024115.1:c.916A>T (CHRNE)	XP_016879604.1:p.Ile306Phe
XR_001752421.1:n.1682A>T (CHRNE)
NM_001145536.2:c.-215T>A (C17orf107) MANE Select	NP_001139008.1:n.-215T>A