Canonical Allele Identifier: CA397301037

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1359093573
• gnomAD v2: 17-4802842-A-G
• gnomAD v4: 17-4899547-A-G
• MyVariant Identifiers: chr17:g.4802842A>G (hg19) ; chr17:g.4899547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899547A>G , CM000679.2:g.4899547A>G	GRCh38
NC_000017.10:g.4802842A>G , CM000679.1:g.4802842A>G	GRCh37
NC_000017.9:g.4743621A>G	NCBI36
NG_008029.2:g.8529T>C
NG_028005.1:g.71208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-216A>G (C17orf107) MANE Select	ENSP00000370770.3:n.-216A>G
ENST00000649488.2:c.953T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Ile318Thr
ENST00000649830.1:c.20T>C (CHRNE)	ENSP00000496907.1:p.Ile7Thr
ENST00000652550.1:n.683T>C (CHRNE)
ENST00000293780.4:c.953T>C (CHRNE)	ENSP00000293780.4:p.Ile318Thr
ENST00000381365.3:c.-216A>G (C17orf107)	ENSP00000370770.3:n.-216A>G
ENST00000521575.1:c.-216A>G (C17orf107)	ENSP00000429241.1:n.-216A>G
ENST00000572438.1:n.639T>C (CHRNE)
NM_000080.3:c.953T>C (CHRNE)	NP_000071.1:p.Ile318Thr
XM_011523612.1:c.-216A>G (C17orf107)	XP_011521914.1:n.-216A>G
XM_011523631.1:c.838T>C (CHRNE)	XP_011521933.1:p.Leu280=
NM_000080.4:c.953T>C (CHRNE) MANE Select	NP_000071.1:p.Ile318Thr
XM_017024115.1:c.917T>C (CHRNE)	XP_016879604.1:p.Ile306Thr
XR_001752421.1:n.1683T>C (CHRNE)
NM_001145536.2:c.-216A>G (C17orf107) MANE Select	NP_001139008.1:n.-216A>G