Canonical Allele Identifier: CA163109

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 135656
• ClinVar RCV Id: RCV000122734 ; RCV000991799 ; RCV001210602
• dbSNP Id: rs483353045
• MyVariant Identifiers: chr17:g.4805306G>T (hg19) ; chr17:g.4902011G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902011G>T , CM000679.2:g.4902011G>T	GRCh38
NC_000017.10:g.4805306G>T , CM000679.1:g.4805306G>T	GRCh37
NC_000017.9:g.4746085G>T	NCBI36
NG_008029.2:g.6065C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*1478G>T (C17orf107) MANE Select	ENSP00000370770.3:n.*1478G>T
ENST00000649488.2:c.421C>A (CHRNE) MANE Select	ENSP00000497829.1:p.Pro141Thr
ENST00000649830.1:c.-513C>A (CHRNE)	ENSP00000496907.1:n.-513C>A
ENST00000293780.4:c.421C>A (CHRNE)	ENSP00000293780.4:p.Pro141Thr
ENST00000381365.3:c.*1478G>T (C17orf107)	ENSP00000370770.3:n.*1478G>T
ENST00000575637.1:n.242C>A (CHRNE)
NM_000080.3:c.421C>A (CHRNE)	NP_000071.1:p.Pro141Thr
NM_001145536.1:c.*1478G>T (C17orf107)	NP_001139008.1:n.*1478G>T
XM_011523612.1:c.546+1505G>T (C17orf107)	XP_011521914.1:n.546+1505G>T
XM_011523631.1:c.421C>A (CHRNE)	XP_011521933.1:p.Pro141Thr
NM_000080.4:c.421C>A (CHRNE) MANE Select	NP_000071.1:p.Pro141Thr
XM_017024115.1:c.385C>A (CHRNE)	XP_016879604.1:p.Pro129Thr
XR_001752421.1:n.1266C>A (CHRNE)
NM_001145536.2:c.*1478G>T (C17orf107) MANE Select	NP_001139008.1:n.*1478G>T