Canonical Allele Identifier: CA397300988

Gene: C17orf107 CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802831A>C (hg19) ; chr17:g.4899536A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899536A>C , CM000679.2:g.4899536A>C	GRCh38
NC_000017.10:g.4802831A>C , CM000679.1:g.4802831A>C	GRCh37
NC_000017.9:g.4743610A>C	NCBI36
NG_008029.2:g.8540T>G
NG_028005.1:g.71197A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-227A>C (C17orf107) MANE Select	ENSP00000370770.3:n.-227A>C
ENST00000649488.2:c.964T>G (CHRNE) MANE Select	ENSP00000497829.1:p.Cys322Gly
ENST00000649830.1:c.31T>G (CHRNE)	ENSP00000496907.1:p.Cys11Gly
ENST00000652550.1:n.694T>G (CHRNE)
ENST00000293780.4:c.964T>G (CHRNE)	ENSP00000293780.4:p.Cys322Gly
ENST00000381365.3:c.-227A>C (C17orf107)	ENSP00000370770.3:n.-227A>C
ENST00000521575.1:c.-227A>C (C17orf107)	ENSP00000429241.1:n.-227A>C
ENST00000572438.1:n.650T>G (CHRNE)
NM_000080.3:c.964T>G (CHRNE)	NP_000071.1:p.Cys322Gly
XM_011523612.1:c.-227A>C (C17orf107)	XP_011521914.1:n.-227A>C
XM_011523631.1:c.*3T>G (CHRNE)	XP_011521933.1:n.*3T>G
NM_000080.4:c.964T>G (CHRNE) MANE Select	NP_000071.1:p.Cys322Gly
XM_017024115.1:c.928T>G (CHRNE)	XP_016879604.1:p.Cys310Gly
XR_001752421.1:n.1694T>G (CHRNE)
NM_001145536.2:c.-227A>C (C17orf107) MANE Select	NP_001139008.1:n.-227A>C