Canonical Allele Identifier: CA497676572
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969957932
MyVariant Identifiers: chr17:g.4804150G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900855G>C , CM000679.2:g.4900855G>C GRCh38
NC_000017.10:g.4804150G>C , CM000679.1:g.4804150G>C GRCh37
NC_000017.9:g.4744929G>C NCBI36
NG_008029.2:g.7221C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381365.4:c.*322G>C (C17orf107) MANE Select ENSP00000370770.3:n.*322G>C
ENST00000649488.2:c.855C>G (CHRNE) MANE Select ENSP00000497829.1:p.Val285=
ENST00000649830.1:c.-79C>G (CHRNE) ENSP00000496907.1:n.-79C>G
ENST00000293780.4:c.855C>G (CHRNE) ENSP00000293780.4:p.Val285=
ENST00000381365.3:c.*322G>C (C17orf107) ENSP00000370770.3:n.*322G>C
ENST00000572438.1:n.541C>G (CHRNE)
NM_000080.3:c.855C>G (CHRNE) NP_000071.1:p.Val285=
NM_001145536.1:c.*322G>C (C17orf107) NP_001139008.1:n.*322G>C
XM_011523612.1:c.546+349G>C (C17orf107) XP_011521914.1:n.546+349G>C
XM_011523631.1:c.802+135C>G (CHRNE) XP_011521933.1:n.802+135C>G
NM_000080.4:c.855C>G (CHRNE) MANE Select NP_000071.1:p.Val285=
XM_017024115.1:c.819C>G (CHRNE) XP_016879604.1:p.Val273=
XR_001752421.1:n.1647+135C>G (CHRNE)
NM_001145536.2:c.*322G>C (C17orf107) MANE Select NP_001139008.1:n.*322G>C