Canonical Allele Identifier: CA397301108

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1473085588
• gnomAD v2: 17-4802864-C-A
• gnomAD v4: 17-4899569-C-A
• MyVariant Identifiers: chr17:g.4802864C>A (hg19) ; chr17:g.4899569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899569C>A , CM000679.2:g.4899569C>A	GRCh38
NC_000017.10:g.4802864C>A , CM000679.1:g.4802864C>A	GRCh37
NC_000017.9:g.4743643C>A	NCBI36
NG_008029.2:g.8507G>T
NG_028005.1:g.71230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-194C>A (C17orf107) MANE Select	ENSP00000370770.3:n.-194C>A
ENST00000649488.2:c.931G>T (CHRNE) MANE Select	ENSP00000497829.1:p.Val311Phe
ENST00000649830.1:c.-3G>T (CHRNE)	ENSP00000496907.1:n.-3G>T
ENST00000652550.1:n.661G>T (CHRNE)
ENST00000293780.4:c.931G>T (CHRNE)	ENSP00000293780.4:p.Val311Phe
ENST00000381365.3:c.-194C>A (C17orf107)	ENSP00000370770.3:n.-194C>A
ENST00000521575.1:c.-194C>A (C17orf107)	ENSP00000429241.1:n.-194C>A
ENST00000572438.1:n.617G>T (CHRNE)
NM_000080.3:c.931G>T (CHRNE)	NP_000071.1:p.Val311Phe
XM_011523612.1:c.-194C>A (C17orf107)	XP_011521914.1:n.-194C>A
XM_011523631.1:c.816G>T (CHRNE)	XP_011521933.1:p.Ser272=
NM_000080.4:c.931G>T (CHRNE) MANE Select	NP_000071.1:p.Val311Phe
XM_017024115.1:c.895G>T (CHRNE)	XP_016879604.1:p.Val299Phe
XR_001752421.1:n.1661G>T (CHRNE)
NM_001145536.2:c.-194C>A (C17orf107) MANE Select	NP_001139008.1:n.-194C>A