Canonical Allele Identifier: CA397308010
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4903027C>G , CM000679.2:g.4903027C>G GRCh38
NC_000017.10:g.4806322C>G , CM000679.1:g.4806322C>G GRCh37
NC_000017.9:g.4747101C>G NCBI36
NG_008029.2:g.5049G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000080.4:c.37G>C (CHRNE) MANE Select NP_000071.1:p.Gly13Arg
ENST00000649488.2:c.37G>C (CHRNE) MANE Select ENSP00000497829.1:p.Gly13Arg
NM_000080.3:c.37G>C (CHRNE) NP_000071.1:p.Gly13Arg
ENST00000293780.4:c.37G>C (CHRNE) ENSP00000293780.4:p.Gly13Arg
ENST00000649830.1:c.-887-264G>C (CHRNE) ENSP00000496907.1:n.-887-264G>C
XM_011523612.1:c.547-1977C>G (C17orf107) XP_011521914.1:n.547-1977C>G
XM_011523631.1:c.37G>C (CHRNE) XP_011521933.1:p.Gly13Arg
XM_017024115.1:c.11-264G>C (CHRNE) XP_016879604.1:n.11-264G>C
XR_001752421.1:n.882G>C (CHRNE)