Canonical Allele Identifier: CA397301028

Gene: C17orf107 CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802840C>G (hg19) ; chr17:g.4899545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899545C>G , CM000679.2:g.4899545C>G	GRCh38
NC_000017.10:g.4802840C>G , CM000679.1:g.4802840C>G	GRCh37
NC_000017.9:g.4743619C>G	NCBI36
NG_008029.2:g.8531G>C
NG_028005.1:g.71206C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-218C>G (C17orf107) MANE Select	ENSP00000370770.3:n.-218C>G
ENST00000649488.2:c.955G>C (CHRNE) MANE Select	ENSP00000497829.1:p.Val319Leu
ENST00000649830.1:c.22G>C (CHRNE)	ENSP00000496907.1:p.Val8Leu
ENST00000652550.1:n.685G>C (CHRNE)
ENST00000293780.4:c.955G>C (CHRNE)	ENSP00000293780.4:p.Val319Leu
ENST00000381365.3:c.-218C>G (C17orf107)	ENSP00000370770.3:n.-218C>G
ENST00000521575.1:c.-218C>G (C17orf107)	ENSP00000429241.1:n.-218C>G
ENST00000572438.1:n.641G>C (CHRNE)
NM_000080.3:c.955G>C (CHRNE)	NP_000071.1:p.Val319Leu
XM_011523612.1:c.-218C>G (C17orf107)	XP_011521914.1:n.-218C>G
XM_011523631.1:c.840G>C (CHRNE)	XP_011521933.1:p.Leu280Phe
NM_000080.4:c.955G>C (CHRNE) MANE Select	NP_000071.1:p.Val319Leu
XM_017024115.1:c.919G>C (CHRNE)	XP_016879604.1:p.Val307Leu
XR_001752421.1:n.1685G>C (CHRNE)
NM_001145536.2:c.-218C>G (C17orf107) MANE Select	NP_001139008.1:n.-218C>G