Canonical Allele Identifier: CA258176
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.4899509G>A
GRCh37 chr17:g.4802804G>A
Revel Score:
ENST00000293780 0.733
gnomAD v2:
17:4802804 G / A
gnomAD v4:
chr17-4899509-G-A
Joint Max Group AF 0.00000617 (NFE)
Exomes Max Group AF 0.00000654 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899509G>A , CM000679.2:g.4899509G>A GRCh38
NC_000017.10:g.4802804G>A , CM000679.1:g.4802804G>A GRCh37
NC_000017.9:g.4743583G>A NCBI36
NG_008029.2:g.8567C>T
NG_028005.1:g.71170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.991C>T (CHRNE) MANE Select ENSP00000497829.1:p.Arg331Trp
ENST00000649830.1:c.58C>T (CHRNE) ENSP00000496907.1:p.Arg20Trp
ENST00000652550.1:n.721C>T (CHRNE)
ENST00000293780.4:c.991C>T (CHRNE) ENSP00000293780.4:p.Arg331Trp
ENST00000521575.1:c.-254G>A (C17orf107) ENSP00000429241.1:n.-254G>A
ENST00000572438.1:n.677C>T (CHRNE)
NM_000080.3:c.991C>T (CHRNE) NP_000071.1:p.Arg331Trp
XM_011523612.1:c.-254G>A (C17orf107) XP_011521914.1:n.-254G>A
XM_011523631.1:c.*30C>T (CHRNE) XP_011521933.1:n.*30C>T
NM_000080.4:c.991C>T (CHRNE) MANE Select NP_000071.1:p.Arg331Trp
XM_017024115.1:c.955C>T (CHRNE) XP_016879604.1:p.Arg319Trp
XR_001752421.1:n.1721C>T (CHRNE)
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