Canonical Allele Identifier: CA730587
Gene: FABP3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.31373007T>C
GRCh37 chr1:g.31845854T>C
Revel Score:
ENST00000373713 (MANE Select) 0.093
gnomAD v2:
1:31845854 T / C
gnomAD v3:
1:31373007 T / C
gnomAD v4:
chr1-31373007-T-C
Joint Max Group AF 0.00802052 (EAS)
Genomes Max Group AF 0.00871375 (EAS)
Exomes Max Group AF 0.00769476 (EAS)
ClinVar RCV:
RCV000907310
ClinVar Variation:
732211
dbSNP:
17848124
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.31373007T>C , CM000663.2:g.31373007T>C GRCh38
NC_000001.10:g.31845854T>C , CM000663.1:g.31845854T>C GRCh37
NC_000001.9:g.31618441T>C NCBI36
NG_047049.1:g.5277A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373713.7:c.8A>G MANE Select ENSP00000362817.2:p.Asp3Gly
ENST00000373713.6:c.8A>G ENSP00000362817.2:p.Asp3Gly
ENST00000482018.1:c.8A>G ENSP00000473982.1:p.Asp3Gly
ENST00000498148.5:c.8A>G ENSP00000474078.1:p.Asp3Gly
NM_004102.3:c.8A>G NP_004093.1:p.Asp3Gly
XM_011541007.1:c.8A>G XP_011539309.1:p.Asp3Gly
NM_001320996.1:c.8A>G NP_001307925.1:p.Asp3Gly
NM_004102.4:c.8A>G NP_004093.1:p.Asp3Gly
XM_011541007.3:c.8A>G XP_011539309.1:p.Asp3Gly
NM_004102.5:c.8A>G MANE Select NP_004093.1:p.Asp3Gly
NM_001320996.2:c.8A>G NP_001307925.1:p.Asp3Gly
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