Canonical Allele Identifier: CA497676566

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 1122479
• ClinVar RCV Id: RCV001453152
• dbSNP Id: rs1969957668
• gnomAD v3: 17-4900851-A-G
• gnomAD v4: 17-4900851-A-G
• MyVariant Identifiers: chr17:g.4804146A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900851A>G , CM000679.2:g.4900851A>G	GRCh38
NC_000017.10:g.4804146A>G , CM000679.1:g.4804146A>G	GRCh37
NC_000017.9:g.4744925A>G	NCBI36
NG_008029.2:g.7225T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*318A>G (C17orf107) MANE Select	ENSP00000370770.3:n.*318A>G
ENST00000649488.2:c.859T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Leu287=
ENST00000649830.1:c.-75T>C (CHRNE)	ENSP00000496907.1:n.-75T>C
ENST00000293780.4:c.859T>C (CHRNE)	ENSP00000293780.4:p.Leu287=
ENST00000381365.3:c.*318A>G (C17orf107)	ENSP00000370770.3:n.*318A>G
ENST00000572438.1:n.545T>C (CHRNE)
NM_000080.3:c.859T>C (CHRNE)	NP_000071.1:p.Leu287=
NM_001145536.1:c.*318A>G (C17orf107)	NP_001139008.1:n.*318A>G
XM_011523612.1:c.546+345A>G (C17orf107)	XP_011521914.1:n.546+345A>G
XM_011523631.1:c.802+139T>C (CHRNE)	XP_011521933.1:n.802+139T>C
NM_000080.4:c.859T>C (CHRNE) MANE Select	NP_000071.1:p.Leu287=
XM_017024115.1:c.823T>C (CHRNE)	XP_016879604.1:p.Leu275=
XR_001752421.1:n.1647+139T>C (CHRNE)
NM_001145536.2:c.*318A>G (C17orf107) MANE Select	NP_001139008.1:n.*318A>G