Canonical Allele Identifier: CA8314485

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs760043533
• ExAC: 17:4805380 A / G
• gnomAD v2: 17-4805380-A-G
• gnomAD v4: 17-4902085-A-G
• MyVariant Identifiers: chr17:g.4805380A>G (hg19) ; chr17:g.4902085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902085A>G , CM000679.2:g.4902085A>G	GRCh38
NC_000017.10:g.4805380A>G , CM000679.1:g.4805380A>G	GRCh37
NC_000017.9:g.4746159A>G	NCBI36
NG_008029.2:g.5991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1552A>G (C17orf107) MANE Select	ENSP00000370770.3:n.*1552A>G
ENST00000649488.2:c.347T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Ile116Thr
ENST00000649830.1:c.-587T>C (CHRNE)	ENSP00000496907.1:n.-587T>C
ENST00000293780.4:c.347T>C (CHRNE)	ENSP00000293780.4:p.Ile116Thr
ENST00000381365.3:c.*1552A>G (C17orf107)	ENSP00000370770.3:n.*1552A>G
ENST00000575637.1:n.168T>C (CHRNE)
NM_000080.3:c.347T>C (CHRNE)	NP_000071.1:p.Ile116Thr
NM_001145536.1:c.*1552A>G (C17orf107)	NP_001139008.1:n.*1552A>G
XM_011523612.1:c.546+1579A>G (C17orf107)	XP_011521914.1:n.546+1579A>G
XM_011523631.1:c.347T>C (CHRNE)	XP_011521933.1:p.Ile116Thr
NM_000080.4:c.347T>C (CHRNE) MANE Select	NP_000071.1:p.Ile116Thr
XM_017024115.1:c.311T>C (CHRNE)	XP_016879604.1:p.Ile104Thr
XR_001752421.1:n.1192T>C (CHRNE)
NM_001145536.2:c.*1552A>G (C17orf107) MANE Select	NP_001139008.1:n.*1552A>G