Canonical Allele Identifier: CA8314602
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.4902692G>A
GRCh37 chr17:g.4805987G>A
Revel Score:
ENST00000293780 0.841
gnomAD v2:
17:4805987 G / A
gnomAD v3:
17:4902692 G / A
gnomAD v4:
chr17-4902692-G-A
Joint Max Group AF 0.00002474 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0000237 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4902692G>A , CM000679.2:g.4902692G>A GRCh38
NC_000017.10:g.4805987G>A , CM000679.1:g.4805987G>A GRCh37
NC_000017.9:g.4746766G>A NCBI36
NG_008029.2:g.5384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.*2159G>A (C17orf107) MANE Select ENSP00000370770.3:n.*2159G>A
ENST00000649488.2:c.118C>T (CHRNE) MANE Select ENSP00000497829.1:p.Arg40Trp
ENST00000649830.1:c.-816C>T (CHRNE) ENSP00000496907.1:n.-816C>T
ENST00000293780.4:c.118C>T (CHRNE) ENSP00000293780.4:p.Arg40Trp
ENST00000381365.3:c.*2159G>A (C17orf107) ENSP00000370770.3:n.*2159G>A
NM_000080.3:c.118C>T (CHRNE) NP_000071.1:p.Arg40Trp
NM_001145536.1:c.*2159G>A (C17orf107) NP_001139008.1:n.*2159G>A
XM_011523612.1:c.546+2186G>A (C17orf107) XP_011521914.1:n.546+2186G>A
XM_011523631.1:c.118C>T (CHRNE) XP_011521933.1:p.Arg40Trp
NM_000080.4:c.118C>T (CHRNE) MANE Select NP_000071.1:p.Arg40Trp
XM_017024115.1:c.82C>T (CHRNE) XP_016879604.1:p.Arg28Trp
XR_001752421.1:n.963C>T (CHRNE)
NM_001145536.2:c.*2159G>A (C17orf107) MANE Select NP_001139008.1:n.*2159G>A
Search 100 bp 5'
Search 100 bp 3'