Canonical Allele Identifier: CA497675953
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802772C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899477C>G , CM000679.2:g.4899477C>G GRCh38
NC_000017.10:g.4802772C>G , CM000679.1:g.4802772C>G GRCh37
NC_000017.9:g.4743551C>G NCBI36
NG_008029.2:g.8599G>C
NG_028005.1:g.71138C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1023G>C (CHRNE) MANE Select ENSP00000497829.1:p.Arg341=
ENST00000649830.1:c.90G>C (CHRNE) ENSP00000496907.1:p.Arg30=
ENST00000652550.1:n.753G>C (CHRNE)
ENST00000293780.4:c.1023G>C (CHRNE) ENSP00000293780.4:p.Arg341=
ENST00000521575.1:c.-286C>G (C17orf107) ENSP00000429241.1:n.-286C>G
ENST00000572438.1:n.709G>C (CHRNE)
NM_000080.3:c.1023G>C (CHRNE) NP_000071.1:p.Arg341=
XM_011523612.1:c.-286C>G (C17orf107) XP_011521914.1:n.-286C>G
NM_000080.4:c.1023G>C (CHRNE) MANE Select NP_000071.1:p.Arg341=
XM_017024115.1:c.987G>C (CHRNE) XP_016879604.1:p.Arg329=
XR_001752421.1:n.1753G>C (CHRNE)