Canonical Allele Identifier: CA3559025
Gene: FGF18 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.171456729C>T
GRCh37 chr5:g.170883733C>T
Revel Score:
ENST00000274625 (MANE Select) 0.106
gnomAD v2:
5:170883733 C / T
gnomAD v3:
5:171456729 C / T
gnomAD v4:
chr5-171456729-C-T
Joint Max Group AF 0.00108233 (NFE)
Genomes Max Group AF 0.00087537 (NFE)
Exomes Max Group AF 0.00108377 (NFE)
ClinVar RCV:
RCV004156506
ClinVar Variation:
2313201
dbSNP:
150911562
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171456729C>T , CM000667.2:g.171456729C>T GRCh38
NC_000005.9:g.170883733C>T , CM000667.1:g.170883733C>T GRCh37
NC_000005.8:g.170816338C>T NCBI36
NG_029158.1:g.42067C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274625.6:c.548C>T MANE Select ENSP00000274625.5:p.Pro183Leu
ENST00000274625.5:c.548C>T ENSP00000274625.5:p.Pro183Leu
NM_003862.2:c.548C>T NP_003853.1:p.Pro183Leu
NM_003862.3:c.548C>T MANE Select NP_003853.1:p.Pro183Leu
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