Canonical Allele Identifier: CA287182586
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.4900796C>A
GRCh37 chr17:g.4804091C>A
Revel Score:
ENST00000293780 0.746
gnomAD v2:
17:4804091 C / A
gnomAD v3:
17:4900796 C / A
gnomAD v4:
chr17-4900796-C-A
Joint Max Group AF 6.8e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900796C>A , CM000679.2:g.4900796C>A GRCh38
NC_000017.10:g.4804091C>A , CM000679.1:g.4804091C>A GRCh37
NC_000017.9:g.4744870C>A NCBI36
NG_008029.2:g.7280G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.*263C>A (C17orf107) MANE Select ENSP00000370770.3:n.*263C>A
ENST00000649488.2:c.914G>T (CHRNE) MANE Select ENSP00000497829.1:p.Gly305Val
ENST00000649830.1:c.-20G>T (CHRNE) ENSP00000496907.1:n.-20G>T
ENST00000293780.4:c.914G>T (CHRNE) ENSP00000293780.4:p.Gly305Val
ENST00000381365.3:c.*263C>A (C17orf107) ENSP00000370770.3:n.*263C>A
ENST00000521575.1:c.*630C>A (C17orf107) ENSP00000429241.1:n.*630C>A
ENST00000572438.1:n.600G>T (CHRNE)
NM_000080.3:c.914G>T (CHRNE) NP_000071.1:p.Gly305Val
NM_001145536.1:c.*263C>A (C17orf107) NP_001139008.1:n.*263C>A
XM_011523612.1:c.546+290C>A (C17orf107) XP_011521914.1:n.546+290C>A
XM_011523631.1:c.802+194G>T (CHRNE) XP_011521933.1:n.802+194G>T
NM_000080.4:c.914G>T (CHRNE) MANE Select NP_000071.1:p.Gly305Val
XM_017024115.1:c.878G>T (CHRNE) XP_016879604.1:p.Gly293Val
XR_001752421.1:n.1647+194G>T (CHRNE)
NM_001145536.2:c.*263C>A (C17orf107) MANE Select NP_001139008.1:n.*263C>A
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