Canonical Allele Identifier: CA583070453
Gene: FABP4 HGNC NCBI

Linked Data

dbSNP Id: rs1187424165
gnomAD v2: 8-82390721-A-G
gnomAD v3: 8-81478486-A-G
gnomAD v4: 8-81478486-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81478486A>G , CM000670.2:g.81478486A>G GRCh38
NC_000008.10:g.82390721A>G , CM000670.1:g.82390721A>G GRCh37
NC_000008.9:g.82553276A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256104.5:c.*379T>C MANE Select ENSP00000256104.4:n.*379T>C
ENST00000256104.4:c.*379T>C ENSP00000256104.4:n.*379T>C
XR_001745980.1:n.514+16512A>G
NM_001442.3:c.*379T>C MANE Select NP_001433.1:n.*379T>C