Canonical Allele Identifier: CA15552131
Gene: FABP4 HGNC NCBI

Linked Data

dbSNP Id: rs16909187
gnomAD v2: 8-82390717-G-A
gnomAD v3: 8-81478482-G-A
gnomAD v4: 8-81478482-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81478482G>A , CM000670.2:g.81478482G>A GRCh38
NC_000008.10:g.82390717G>A , CM000670.1:g.82390717G>A GRCh37
NC_000008.9:g.82553272G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256104.5:c.*383C>T MANE Select ENSP00000256104.4:n.*383C>T
ENST00000256104.4:c.*383C>T ENSP00000256104.4:n.*383C>T
XR_001745980.1:n.514+16508G>A
NM_001442.3:c.*383C>T MANE Select NP_001433.1:n.*383C>T