Canonical Allele Identifier: CA397306137

Gene: C17orf107 CHRNE

Linked Data

• gnomAD v4: 17-4901966-G-C
• MyVariant Identifiers: chr17:g.4805261G>C (hg19) ; chr17:g.4901966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4901966G>C , CM000679.2:g.4901966G>C	GRCh38
NC_000017.10:g.4805261G>C , CM000679.1:g.4805261G>C	GRCh37
NC_000017.9:g.4746040G>C	NCBI36
NG_008029.2:g.6110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1433G>C (C17orf107) MANE Select	ENSP00000370770.3:n.*1433G>C
ENST00000649488.2:c.466C>G (CHRNE) MANE Select	ENSP00000497829.1:p.Pro156Ala
ENST00000649830.1:c.-468C>G (CHRNE)	ENSP00000496907.1:n.-468C>G
ENST00000293780.4:c.466C>G (CHRNE)	ENSP00000293780.4:p.Pro156Ala
ENST00000381365.3:c.*1433G>C (C17orf107)	ENSP00000370770.3:n.*1433G>C
ENST00000575637.1:n.274+13C>G (CHRNE)
NM_000080.3:c.466C>G (CHRNE)	NP_000071.1:p.Pro156Ala
NM_001145536.1:c.*1433G>C (C17orf107)	NP_001139008.1:n.*1433G>C
XM_011523612.1:c.546+1460G>C (C17orf107)	XP_011521914.1:n.546+1460G>C
XM_011523631.1:c.466C>G (CHRNE)	XP_011521933.1:p.Pro156Ala
NM_000080.4:c.466C>G (CHRNE) MANE Select	NP_000071.1:p.Pro156Ala
XM_017024115.1:c.430C>G (CHRNE)	XP_016879604.1:p.Pro144Ala
XR_001752421.1:n.1311C>G (CHRNE)
NM_001145536.2:c.*1433G>C (C17orf107) MANE Select	NP_001139008.1:n.*1433G>C