Canonical Allele Identifier: CA8314449

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs368846437
• ExAC: 17:4805258 A / G
• gnomAD v2: 17-4805258-A-G
• gnomAD v3: 17-4901963-A-G
• gnomAD v4: 17-4901963-A-G
• MyVariant Identifiers: chr17:g.4805258A>G (hg19) ; chr17:g.4901963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4901963A>G , CM000679.2:g.4901963A>G	GRCh38
NC_000017.10:g.4805258A>G , CM000679.1:g.4805258A>G	GRCh37
NC_000017.9:g.4746037A>G	NCBI36
NG_008029.2:g.6113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1430A>G (C17orf107) MANE Select	ENSP00000370770.3:n.*1430A>G
ENST00000649488.2:c.469T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Phe157Leu
ENST00000649830.1:c.-465T>C (CHRNE)	ENSP00000496907.1:n.-465T>C
ENST00000293780.4:c.469T>C (CHRNE)	ENSP00000293780.4:p.Phe157Leu
ENST00000381365.3:c.*1430A>G (C17orf107)	ENSP00000370770.3:n.*1430A>G
ENST00000575637.1:n.274+16T>C (CHRNE)
NM_000080.3:c.469T>C (CHRNE)	NP_000071.1:p.Phe157Leu
NM_001145536.1:c.*1430A>G (C17orf107)	NP_001139008.1:n.*1430A>G
XM_011523612.1:c.546+1457A>G (C17orf107)	XP_011521914.1:n.546+1457A>G
XM_011523631.1:c.469T>C (CHRNE)	XP_011521933.1:p.Phe157Leu
NM_000080.4:c.469T>C (CHRNE) MANE Select	NP_000071.1:p.Phe157Leu
XM_017024115.1:c.433T>C (CHRNE)	XP_016879604.1:p.Phe145Leu
XR_001752421.1:n.1314T>C (CHRNE)
NM_001145536.2:c.*1430A>G (C17orf107) MANE Select	NP_001139008.1:n.*1430A>G