Canonical Allele Identifier: CA730579
Gene: FABP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2610070
ClinVar RCV Id: RCV004353715
dbSNP Id: rs557563818
ExAC: 1:31845827 A / T
gnomAD v2: 1-31845827-A-T
gnomAD v3: 1-31372980-A-T
gnomAD v4: 1-31372980-A-T
MyVariant Identifiers: chr1:g.31845827A>T (hg19) chr1:g.31372980A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.31372980A>T , CM000663.2:g.31372980A>T GRCh38
NC_000001.10:g.31845827A>T , CM000663.1:g.31845827A>T GRCh37
NC_000001.9:g.31618414A>T NCBI36
NG_047049.1:g.5304T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373713.7:c.35T>A MANE Select ENSP00000362817.2:p.Val12Glu
ENST00000373713.6:c.35T>A ENSP00000362817.2:p.Val12Glu
ENST00000482018.1:c.35T>A ENSP00000473982.1:p.Val12Glu
ENST00000498148.5:c.35T>A ENSP00000474078.1:p.Val12Glu
NM_004102.3:c.35T>A NP_004093.1:p.Val12Glu
XM_011541007.1:c.35T>A XP_011539309.1:p.Val12Glu
NM_001320996.1:c.35T>A NP_001307925.1:p.Val12Glu
NM_004102.4:c.35T>A NP_004093.1:p.Val12Glu
XM_011541007.3:c.35T>A XP_011539309.1:p.Val12Glu
NM_004102.5:c.35T>A MANE Select NP_004093.1:p.Val12Glu
NM_001320996.2:c.35T>A NP_001307925.1:p.Val12Glu
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