Canonical Allele Identifier: CA287180578

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 2170906
• ClinVar RCV Id: RCV003080783
• dbSNP Id: rs369641727
• MyVariant Identifiers: chr17:g.4802773C>T (hg19) ; chr17:g.4899478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899478C>T , CM000679.2:g.4899478C>T	GRCh38
NC_000017.10:g.4802773C>T , CM000679.1:g.4802773C>T	GRCh37
NC_000017.9:g.4743552C>T	NCBI36
NG_008029.2:g.8598G>A
NG_028005.1:g.71139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1022G>A (CHRNE) MANE Select	ENSP00000497829.1:p.Arg341Gln
ENST00000649830.1:c.89G>A (CHRNE)	ENSP00000496907.1:p.Arg30Gln
ENST00000652550.1:n.752G>A (CHRNE)
ENST00000293780.4:c.1022G>A (CHRNE)	ENSP00000293780.4:p.Arg341Gln
ENST00000521575.1:c.-285C>T (C17orf107)	ENSP00000429241.1:n.-285C>T
ENST00000572438.1:n.708G>A (CHRNE)
NM_000080.3:c.1022G>A (CHRNE)	NP_000071.1:p.Arg341Gln
XM_011523612.1:c.-285C>T (C17orf107)	XP_011521914.1:n.-285C>T
NM_000080.4:c.1022G>A (CHRNE) MANE Select	NP_000071.1:p.Arg341Gln
XM_017024115.1:c.986G>A (CHRNE)	XP_016879604.1:p.Arg329Gln
XR_001752421.1:n.1752G>A (CHRNE)