Canonical Allele Identifier: CA397304503

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900857C>G , CM000679.2:g.4900857C>G	GRCh38
NC_000017.10:g.4804152C>G , CM000679.1:g.4804152C>G	GRCh37
NC_000017.9:g.4744931C>G	NCBI36
NG_008029.2:g.7219G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000080.4:c.853G>C (CHRNE) MANE Select	NP_000071.1:p.Val285Leu
NM_001145536.2:c.*324C>G (C17orf107) MANE Select	NP_001139008.1:n.*324C>G
ENST00000381365.4:c.*324C>G (C17orf107) MANE Select	ENSP00000370770.3:n.*324C>G
ENST00000649488.2:c.853G>C (CHRNE) MANE Select	ENSP00000497829.1:p.Val285Leu
NM_000080.3:c.853G>C (CHRNE)	NP_000071.1:p.Val285Leu
NM_001145536.1:c.*324C>G (C17orf107)	NP_001139008.1:n.*324C>G
ENST00000293780.4:c.853G>C (CHRNE)	ENSP00000293780.4:p.Val285Leu
ENST00000381365.3:c.*324C>G (C17orf107)	ENSP00000370770.3:n.*324C>G
ENST00000572438.1:n.539G>C (CHRNE)
ENST00000649830.1:c.-81G>C (CHRNE)	ENSP00000496907.1:n.-81G>C
XM_011523612.1:c.546+351C>G (C17orf107)	XP_011521914.1:n.546+351C>G
XM_011523631.1:c.802+133G>C (CHRNE)	XP_011521933.1:n.802+133G>C
XM_017024115.1:c.817G>C (CHRNE)	XP_016879604.1:p.Val273Leu
XR_001752421.1:n.1647+133G>C (CHRNE)