Canonical Allele Identifier: CA497542622
Community Standard Title: NM_000080.4(CHRNE):c.27G>A (p.Leu9=)
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4903037C>T , CM000679.2:g.4903037C>T GRCh38
NC_000017.10:g.4806332C>T , CM000679.1:g.4806332C>T GRCh37
NC_000017.9:g.4747111C>T NCBI36
NG_008029.2:g.5039G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000080.4:c.27G>A (CHRNE) MANE Select NP_000071.1:p.Leu9=
ENST00000649488.2:c.27G>A (CHRNE) MANE Select ENSP00000497829.1:p.Leu9=
NM_000080.3:c.27G>A (CHRNE) NP_000071.1:p.Leu9=
ENST00000293780.4:c.27G>A (CHRNE) ENSP00000293780.4:p.Leu9=
ENST00000649830.1:c.-887-274G>A (CHRNE) ENSP00000496907.1:n.-887-274G>A
XM_011523612.1:c.547-1967C>T (C17orf107) XP_011521914.1:n.547-1967C>T
XM_011523631.1:c.27G>A (CHRNE) XP_011521933.1:p.Leu9=
XM_017024115.1:c.11-274G>A (CHRNE) XP_016879604.1:n.11-274G>A
XR_001752421.1:n.872G>A (CHRNE)