Canonical Allele Identifier: CA397307279

Gene: C17orf107 CHRNE

Linked Data

• gnomAD v4: 17-4902308-G-C
• MyVariant Identifiers: chr17:g.4805603G>C (hg19) ; chr17:g.4902308G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902308G>C , CM000679.2:g.4902308G>C	GRCh38
NC_000017.10:g.4805603G>C , CM000679.1:g.4805603G>C	GRCh37
NC_000017.9:g.4746382G>C	NCBI36
NG_008029.2:g.5768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1775G>C (C17orf107) MANE Select	ENSP00000370770.3:n.*1775G>C
ENST00000649488.2:c.253C>G (CHRNE) MANE Select	ENSP00000497829.1:p.Leu85Val
ENST00000649830.1:c.-681C>G (CHRNE)	ENSP00000496907.1:n.-681C>G
ENST00000293780.4:c.253C>G (CHRNE)	ENSP00000293780.4:p.Leu85Val
ENST00000381365.3:c.*1775G>C (C17orf107)	ENSP00000370770.3:n.*1775G>C
ENST00000575637.1:n.74C>G (CHRNE)
NM_000080.3:c.253C>G (CHRNE)	NP_000071.1:p.Leu85Val
NM_001145536.1:c.*1775G>C (C17orf107)	NP_001139008.1:n.*1775G>C
XM_011523612.1:c.546+1802G>C (C17orf107)	XP_011521914.1:n.546+1802G>C
XM_011523631.1:c.253C>G (CHRNE)	XP_011521933.1:p.Leu85Val
NM_000080.4:c.253C>G (CHRNE) MANE Select	NP_000071.1:p.Leu85Val
XM_017024115.1:c.217C>G (CHRNE)	XP_016879604.1:p.Leu73Val
XR_001752421.1:n.1098C>G (CHRNE)
NM_001145536.2:c.*1775G>C (C17orf107) MANE Select	NP_001139008.1:n.*1775G>C