Canonical Allele Identifier: CA362137983
Gene: FGF18 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.171420212C>T
GRCh37 chr5:g.170847216C>T
Revel Score:
ENST00000274625 (MANE Select) 0.067
gnomAD v2:
5:170847216 C / T
gnomAD v3:
5:171420212 C / T
gnomAD v4:
chr5-171420212-C-T
Joint Max Group AF 0.00000628 (NFE)
Genomes Max Group AF 0.00000489 (NFE)
Exomes Max Group AF 0.00000543 (NFE)
ClinVar RCV:
RCV004150509
ClinVar Variation:
2302652
dbSNP:
1387858949
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171420212C>T , CM000667.2:g.171420212C>T GRCh38
NC_000005.9:g.170847216C>T , CM000667.1:g.170847216C>T GRCh37
NC_000005.8:g.170779821C>T NCBI36
NG_029158.1:g.5550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274625.6:c.13C>T MANE Select ENSP00000274625.5:p.Pro5Ser
ENST00000675071.1:c.197C>T ENSP00000502466.1:p.Ala66Val
ENST00000274625.5:c.13C>T ENSP00000274625.5:p.Pro5Ser
NM_003862.2:c.13C>T NP_003853.1:p.Pro5Ser
NM_003862.3:c.13C>T MANE Select NP_003853.1:p.Pro5Ser
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