Canonical Allele Identifier: CA397301052

Gene: C17orf107 CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802848G>C (hg19) ; chr17:g.4899553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899553G>C , CM000679.2:g.4899553G>C	GRCh38
NC_000017.10:g.4802848G>C , CM000679.1:g.4802848G>C	GRCh37
NC_000017.9:g.4743627G>C	NCBI36
NG_008029.2:g.8523C>G
NG_028005.1:g.71214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-210G>C (C17orf107) MANE Select	ENSP00000370770.3:n.-210G>C
ENST00000649488.2:c.947C>G (CHRNE) MANE Select	ENSP00000497829.1:p.Thr316Arg
ENST00000649830.1:c.14C>G (CHRNE)	ENSP00000496907.1:p.Thr5Arg
ENST00000652550.1:n.677C>G (CHRNE)
ENST00000293780.4:c.947C>G (CHRNE)	ENSP00000293780.4:p.Thr316Arg
ENST00000381365.3:c.-210G>C (C17orf107)	ENSP00000370770.3:n.-210G>C
ENST00000521575.1:c.-210G>C (C17orf107)	ENSP00000429241.1:n.-210G>C
ENST00000572438.1:n.633C>G (CHRNE)
NM_000080.3:c.947C>G (CHRNE)	NP_000071.1:p.Thr316Arg
XM_011523612.1:c.-210G>C (C17orf107)	XP_011521914.1:n.-210G>C
XM_011523631.1:c.832C>G (CHRNE)	XP_011521933.1:p.Arg278Gly
NM_000080.4:c.947C>G (CHRNE) MANE Select	NP_000071.1:p.Thr316Arg
XM_017024115.1:c.911C>G (CHRNE)	XP_016879604.1:p.Thr304Arg
XR_001752421.1:n.1677C>G (CHRNE)
NM_001145536.2:c.-210G>C (C17orf107) MANE Select	NP_001139008.1:n.-210G>C