Canonical Allele Identifier: CA8314519

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 648496
• ClinVar RCV Id: RCV000803241
• dbSNP Id: rs779426416
• ExAC: 17:4805531 C / T
• gnomAD v2: 17-4805531-C-T
• gnomAD v4: 17-4902236-C-T
• MyVariant Identifiers: chr17:g.4805531C>T (hg19) ; chr17:g.4902236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902236C>T , CM000679.2:g.4902236C>T	GRCh38
NC_000017.10:g.4805531C>T , CM000679.1:g.4805531C>T	GRCh37
NC_000017.9:g.4746310C>T	NCBI36
NG_008029.2:g.5840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1703C>T (C17orf107) MANE Select	ENSP00000370770.3:n.*1703C>T
ENST00000649488.2:c.325G>A (CHRNE) MANE Select	ENSP00000497829.1:p.Glu109Lys
ENST00000649830.1:c.-609G>A (CHRNE)	ENSP00000496907.1:n.-609G>A
ENST00000293780.4:c.325G>A (CHRNE)	ENSP00000293780.4:p.Glu109Lys
ENST00000381365.3:c.*1703C>T (C17orf107)	ENSP00000370770.3:n.*1703C>T
ENST00000575637.1:n.146G>A (CHRNE)
NM_000080.3:c.325G>A (CHRNE)	NP_000071.1:p.Glu109Lys
NM_001145536.1:c.*1703C>T (C17orf107)	NP_001139008.1:n.*1703C>T
XM_011523612.1:c.546+1730C>T (C17orf107)	XP_011521914.1:n.546+1730C>T
XM_011523631.1:c.325G>A (CHRNE)	XP_011521933.1:p.Glu109Lys
NM_000080.4:c.325G>A (CHRNE) MANE Select	NP_000071.1:p.Glu109Lys
XM_017024115.1:c.289G>A (CHRNE)	XP_016879604.1:p.Glu97Lys
XR_001752421.1:n.1170G>A (CHRNE)
NM_001145536.2:c.*1703C>T (C17orf107) MANE Select	NP_001139008.1:n.*1703C>T