Canonical Allele Identifier: CA397304480

Gene: C17orf107 CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4804145A>C (hg19) ; chr17:g.4900850A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900850A>C , CM000679.2:g.4900850A>C	GRCh38
NC_000017.10:g.4804145A>C , CM000679.1:g.4804145A>C	GRCh37
NC_000017.9:g.4744924A>C	NCBI36
NG_008029.2:g.7226T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*317A>C (C17orf107) MANE Select	ENSP00000370770.3:n.*317A>C
ENST00000649488.2:c.860T>G (CHRNE) MANE Select	ENSP00000497829.1:p.Leu287Trp
ENST00000649830.1:c.-74T>G (CHRNE)	ENSP00000496907.1:n.-74T>G
ENST00000293780.4:c.860T>G (CHRNE)	ENSP00000293780.4:p.Leu287Trp
ENST00000381365.3:c.*317A>C (C17orf107)	ENSP00000370770.3:n.*317A>C
ENST00000572438.1:n.546T>G (CHRNE)
NM_000080.3:c.860T>G (CHRNE)	NP_000071.1:p.Leu287Trp
NM_001145536.1:c.*317A>C (C17orf107)	NP_001139008.1:n.*317A>C
XM_011523612.1:c.546+344A>C (C17orf107)	XP_011521914.1:n.546+344A>C
XM_011523631.1:c.802+140T>G (CHRNE)	XP_011521933.1:n.802+140T>G
NM_000080.4:c.860T>G (CHRNE) MANE Select	NP_000071.1:p.Leu287Trp
XM_017024115.1:c.824T>G (CHRNE)	XP_016879604.1:p.Leu275Trp
XR_001752421.1:n.1647+140T>G (CHRNE)
NM_001145536.2:c.*317A>C (C17orf107) MANE Select	NP_001139008.1:n.*317A>C