Canonical Allele Identifier: CA397307047

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 1896707
• ClinVar RCV Id: RCV002575944 ; RCV003146579
• dbSNP Id: rs1440717363
• gnomAD v2: 17-4805555-G-C
• gnomAD v3: 17-4902260-G-C
• gnomAD v4: 17-4902260-G-C
• MyVariant Identifiers: chr17:g.4805555G>C (hg19) ; chr17:g.4902260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902260G>C , CM000679.2:g.4902260G>C	GRCh38
NC_000017.10:g.4805555G>C , CM000679.1:g.4805555G>C	GRCh37
NC_000017.9:g.4746334G>C	NCBI36
NG_008029.2:g.5816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1727G>C (C17orf107) MANE Select	ENSP00000370770.3:n.*1727G>C
ENST00000649488.2:c.301C>G (CHRNE) MANE Select	ENSP00000497829.1:p.Pro101Ala
ENST00000649830.1:c.-633C>G (CHRNE)	ENSP00000496907.1:n.-633C>G
ENST00000293780.4:c.301C>G (CHRNE)	ENSP00000293780.4:p.Pro101Ala
ENST00000381365.3:c.*1727G>C (C17orf107)	ENSP00000370770.3:n.*1727G>C
ENST00000575637.1:n.122C>G (CHRNE)
NM_000080.3:c.301C>G (CHRNE)	NP_000071.1:p.Pro101Ala
NM_001145536.1:c.*1727G>C (C17orf107)	NP_001139008.1:n.*1727G>C
XM_011523612.1:c.546+1754G>C (C17orf107)	XP_011521914.1:n.546+1754G>C
XM_011523631.1:c.301C>G (CHRNE)	XP_011521933.1:p.Pro101Ala
NM_000080.4:c.301C>G (CHRNE) MANE Select	NP_000071.1:p.Pro101Ala
XM_017024115.1:c.265C>G (CHRNE)	XP_016879604.1:p.Pro89Ala
XR_001752421.1:n.1146C>G (CHRNE)
NM_001145536.2:c.*1727G>C (C17orf107) MANE Select	NP_001139008.1:n.*1727G>C