Canonical Allele Identifier: CA258174

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 18347
• ClinVar RCV Id: RCV000020015 ; RCV000687026 ; RCV001781291
• dbSNP Id: rs121909513
• gnomAD v2: 17-4805606-G-A
• gnomAD v3: 17-4902311-G-A
• gnomAD v4: 17-4902311-G-A
• MyVariant Identifiers: chr17:g.4805606G>A (hg19) ; chr17:g.4902311G>A (hg38)
• PubMed: PMID:9158150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902311G>A , CM000679.2:g.4902311G>A	GRCh38
NC_000017.10:g.4805606G>A , CM000679.1:g.4805606G>A	GRCh37
NC_000017.9:g.4746385G>A	NCBI36
NG_008029.2:g.5765C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*1778G>A (C17orf107) MANE Select	ENSP00000370770.3:n.*1778G>A
ENST00000649488.2:c.250C>T (CHRNE) MANE Select	ENSP00000497829.1:p.Arg84Ter
ENST00000649830.1:c.-684C>T (CHRNE)	ENSP00000496907.1:n.-684C>T
ENST00000293780.4:c.250C>T (CHRNE)	ENSP00000293780.4:p.Arg84Ter
ENST00000381365.3:c.*1778G>A (C17orf107)	ENSP00000370770.3:n.*1778G>A
ENST00000575637.1:n.71C>T (CHRNE)
NM_000080.3:c.250C>T (CHRNE)	NP_000071.1:p.Arg84Ter
NM_001145536.1:c.*1778G>A (C17orf107)	NP_001139008.1:n.*1778G>A
XM_011523612.1:c.546+1805G>A (C17orf107)	XP_011521914.1:n.546+1805G>A
XM_011523631.1:c.250C>T (CHRNE)	XP_011521933.1:p.Arg84Ter
NM_000080.4:c.250C>T (CHRNE) MANE Select	NP_000071.1:p.Arg84Ter
XM_017024115.1:c.214C>T (CHRNE)	XP_016879604.1:p.Arg72Ter
XR_001752421.1:n.1095C>T (CHRNE)
NM_001145536.2:c.*1778G>A (C17orf107) MANE Select	NP_001139008.1:n.*1778G>A