Canonical Allele Identifier: CA397307365

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs777458923
• gnomAD v3: 17-4902324-A-T
• gnomAD v4: 17-4902324-A-T
• MyVariant Identifiers: chr17:g.4805619A>T (hg19) ; chr17:g.4902324A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902324A>T , CM000679.2:g.4902324A>T	GRCh38
NC_000017.10:g.4805619A>T , CM000679.1:g.4805619A>T	GRCh37
NC_000017.9:g.4746398A>T	NCBI36
NG_008029.2:g.5752T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1791A>T (C17orf107) MANE Select	ENSP00000370770.3:n.*1791A>T
ENST00000649488.2:c.237T>A (CHRNE) MANE Select	ENSP00000497829.1:p.Asp79Glu
ENST00000649830.1:c.-697T>A (CHRNE)	ENSP00000496907.1:n.-697T>A
ENST00000293780.4:c.237T>A (CHRNE)	ENSP00000293780.4:p.Asp79Glu
ENST00000381365.3:c.*1791A>T (C17orf107)	ENSP00000370770.3:n.*1791A>T
ENST00000575637.1:n.58T>A (CHRNE)
NM_000080.3:c.237T>A (CHRNE)	NP_000071.1:p.Asp79Glu
NM_001145536.1:c.*1791A>T (C17orf107)	NP_001139008.1:n.*1791A>T
XM_011523612.1:c.546+1818A>T (C17orf107)	XP_011521914.1:n.546+1818A>T
XM_011523631.1:c.237T>A (CHRNE)	XP_011521933.1:p.Asp79Glu
NM_000080.4:c.237T>A (CHRNE) MANE Select	NP_000071.1:p.Asp79Glu
XM_017024115.1:c.201T>A (CHRNE)	XP_016879604.1:p.Asp67Glu
XR_001752421.1:n.1082T>A (CHRNE)
NM_001145536.2:c.*1791A>T (C17orf107) MANE Select	NP_001139008.1:n.*1791A>T