Canonical Allele Identifier: CA397306312

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2973020
• ClinVar RCV Id: RCV003838130
• dbSNP Id: rs1597621555
• gnomAD v4: 17-4902052-T-G
• MyVariant Identifiers: chr17:g.4805347T>G (hg19) ; chr17:g.4902052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902052T>G , CM000679.2:g.4902052T>G	GRCh38
NC_000017.10:g.4805347T>G , CM000679.1:g.4805347T>G	GRCh37
NC_000017.9:g.4746126T>G	NCBI36
NG_008029.2:g.6024A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1519T>G (C17orf107) MANE Select	ENSP00000370770.3:n.*1519T>G
ENST00000649488.2:c.380A>C (CHRNE) MANE Select	ENSP00000497829.1:p.Asn127Thr
ENST00000649830.1:c.-554A>C (CHRNE)	ENSP00000496907.1:n.-554A>C
ENST00000293780.4:c.380A>C (CHRNE)	ENSP00000293780.4:p.Asn127Thr
ENST00000381365.3:c.*1519T>G (C17orf107)	ENSP00000370770.3:n.*1519T>G
ENST00000575637.1:n.201A>C (CHRNE)
NM_000080.3:c.380A>C (CHRNE)	NP_000071.1:p.Asn127Thr
NM_001145536.1:c.*1519T>G (C17orf107)	NP_001139008.1:n.*1519T>G
XM_011523612.1:c.546+1546T>G (C17orf107)	XP_011521914.1:n.546+1546T>G
XM_011523631.1:c.380A>C (CHRNE)	XP_011521933.1:p.Asn127Thr
NM_000080.4:c.380A>C (CHRNE) MANE Select	NP_000071.1:p.Asn127Thr
XM_017024115.1:c.344A>C (CHRNE)	XP_016879604.1:p.Asn115Thr
XR_001752421.1:n.1225A>C (CHRNE)
NM_001145536.2:c.*1519T>G (C17orf107) MANE Select	NP_001139008.1:n.*1519T>G