Canonical Allele Identifier: CA583070506
Gene: FABP4 HGNC NCBI

Linked Data

dbSNP Id: rs1399497089
gnomAD v2: 8-82390971-A-C
gnomAD v3: 8-81478736-A-C
gnomAD v4: 8-81478736-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81478736A>C , CM000670.2:g.81478736A>C GRCh38
NC_000008.10:g.82390971A>C , CM000670.1:g.82390971A>C GRCh37
NC_000008.9:g.82553526A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256104.5:c.*129T>G MANE Select ENSP00000256104.4:n.*129T>G
ENST00000256104.4:c.*129T>G ENSP00000256104.4:n.*129T>G
ENST00000518669.5:n.463T>G
ENST00000521734.1:n.737T>G
ENST00000522659.1:c.*404T>G ENSP00000428385.1:n.*404T>G
NM_001442.2:c.*129T>G NP_001433.1:n.*129T>G
XR_001745980.1:n.514+16762A>C
NM_001442.3:c.*129T>G MANE Select NP_001433.1:n.*129T>G