Canonical Allele Identifier: CA2244611954
Community Standard Title: NM_000080.4(CHRNE):c.715A= (p.Lys239=)
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4901077T= , CM000679.2:g.4901077T= GRCh38
NC_000017.10:g.4804372T= , CM000679.1:g.4804372T= GRCh37
NC_000017.9:g.4745151T= NCBI36
NG_008029.2:g.6999A=

Transcript Alleles

HGVS Amino-acid Change
NM_000080.4:c.715A= (CHRNE) MANE Select NP_000071.1:p.Lys239=
NM_001145536.2:c.*544T= (C17orf107) MANE Select NP_001139008.1:n.*544T=
ENST00000381365.4:c.*544T= (C17orf107) MANE Select ENSP00000370770.3:n.*544T=
ENST00000649488.2:c.715A= (CHRNE) MANE Select ENSP00000497829.1:p.Lys239=
NM_000080.3:c.715A= (CHRNE) NP_000071.1:p.Lys239=
NM_001145536.1:c.*544T= (C17orf107) NP_001139008.1:n.*544T=
ENST00000293780.4:c.715A= (CHRNE) ENSP00000293780.4:p.Lys239=
ENST00000381365.3:c.*544T= (C17orf107) ENSP00000370770.3:n.*544T=
ENST00000572438.1:n.401A= (CHRNE)
ENST00000575637.1:n.489A= (CHRNE)
ENST00000649830.1:c.-219A= (CHRNE) ENSP00000496907.1:n.-219A=
XM_011523612.1:c.546+571T= (C17orf107) XP_011521914.1:n.546+571T=
XM_011523631.1:c.715A= (CHRNE) XP_011521933.1:p.Lys239=
XM_017024115.1:c.679A= (CHRNE) XP_016879604.1:p.Lys227=
XR_001752421.1:n.1560A= (CHRNE)