Canonical Allele Identifier: CA128056
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 18344
dbSNP Id: rs121909511

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900845G>A , CM000679.2:g.4900845G>A GRCh38
NC_000017.10:g.4804140G>A , CM000679.1:g.4804140G>A GRCh37
NC_000017.9:g.4744919G>A NCBI36
NG_008029.2:g.7231C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381365.4:c.*312G>A (C17orf107) MANE Select ENSP00000370770.3:n.*312G>A
ENST00000649488.2:c.865C>T (CHRNE) MANE Select ENSP00000497829.1:p.Leu289Phe
ENST00000649830.1:c.-69C>T (CHRNE) ENSP00000496907.1:n.-69C>T
ENST00000293780.4:c.865C>T (CHRNE) ENSP00000293780.4:p.Leu289Phe
ENST00000381365.3:c.*312G>A (C17orf107) ENSP00000370770.3:n.*312G>A
ENST00000572438.1:n.551C>T (CHRNE)
NM_000080.3:c.865C>T (CHRNE) NP_000071.1:p.Leu289Phe
NM_001145536.1:c.*312G>A (C17orf107) NP_001139008.1:n.*312G>A
XM_011523612.1:c.546+339G>A (C17orf107) XP_011521914.1:n.546+339G>A
XM_011523631.1:c.802+145C>T (CHRNE) XP_011521933.1:n.802+145C>T
NM_000080.4:c.865C>T (CHRNE) MANE Select NP_000071.1:p.Leu289Phe
XM_017024115.1:c.829C>T (CHRNE) XP_016879604.1:p.Leu277Phe
XR_001752421.1:n.1647+145C>T (CHRNE)
NM_001145536.2:c.*312G>A (C17orf107) MANE Select NP_001139008.1:n.*312G>A