Canonical Allele Identifier: CA3146100
Gene: NEIL3 HGNC NCBI
COSMIC:
COSM4158923 (not active)
COSM4158924 (not active)
MyVariant.info:
GRCh38 chr4:g.177309998C>A
GRCh37 chr4:g.178231152C>A
gnomAD v2:
4:178231152 C / A
gnomAD v3:
4:177309998 C / A
gnomAD v4:
chr4-177309998-C-A
Joint Max Group AF 0.27272169 (MID)
Genomes Max Group AF 0.22217067 (NFE)
Exomes Max Group AF 0.2723038 (MID)
ClinVar RCV:
RCV003490339
ClinVar Variation:
2688445
dbSNP:
10013040
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177309998C>A , CM000666.2:g.177309998C>A GRCh38
NC_000004.11:g.178231152C>A , CM000666.1:g.178231152C>A GRCh37
NC_000004.10:g.178468146C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264596.4:c.45C>A MANE Select ENSP00000264596.3:p.Arg15=
ENST00000264596.3:c.45C>A ENSP00000264596.3:p.Arg15=
ENST00000513321.1:c.45C>A ENSP00000424735.1:p.Arg15=
NM_018248.2:c.45C>A NP_060718.2:p.Arg15=
XM_017008360.1:c.45C>A XP_016863849.1:p.Arg15=
NM_018248.3:c.45C>A MANE Select NP_060718.3:p.Arg15=
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