Canonical Allele Identifier: CA16620466

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 420494
• ClinVar RCV Id: RCV000481376
• dbSNP Id: rs1064794516
• MyVariant Identifiers: chr17:g.4805547T>A (hg19) ; chr17:g.4902252T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902252T>A , CM000679.2:g.4902252T>A	GRCh38
NC_000017.10:g.4805547T>A , CM000679.1:g.4805547T>A	GRCh37
NC_000017.9:g.4746326T>A	NCBI36
NG_008029.2:g.5824A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1719T>A (C17orf107) MANE Select	ENSP00000370770.3:n.*1719T>A
ENST00000649488.2:c.309A>T (CHRNE) MANE Select	ENSP00000497829.1:p.Glu103Asp
ENST00000649830.1:c.-625A>T (CHRNE)	ENSP00000496907.1:n.-625A>T
ENST00000293780.4:c.309A>T (CHRNE)	ENSP00000293780.4:p.Glu103Asp
ENST00000381365.3:c.*1719T>A (C17orf107)	ENSP00000370770.3:n.*1719T>A
ENST00000575637.1:n.130A>T (CHRNE)
NM_000080.3:c.309A>T (CHRNE)	NP_000071.1:p.Glu103Asp
NM_001145536.1:c.*1719T>A (C17orf107)	NP_001139008.1:n.*1719T>A
XM_011523612.1:c.546+1746T>A (C17orf107)	XP_011521914.1:n.546+1746T>A
XM_011523631.1:c.309A>T (CHRNE)	XP_011521933.1:p.Glu103Asp
NM_000080.4:c.309A>T (CHRNE) MANE Select	NP_000071.1:p.Glu103Asp
XM_017024115.1:c.273A>T (CHRNE)	XP_016879604.1:p.Glu91Asp
XR_001752421.1:n.1154A>T (CHRNE)
NM_001145536.2:c.*1719T>A (C17orf107) MANE Select	NP_001139008.1:n.*1719T>A