Canonical Allele Identifier: CA2601096059
Gene: FABP4 HGNC NCBI

Linked Data

gnomAD v3: 8-81478720-C-G
gnomAD v4: 8-81478720-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81478720C>G , CM000670.2:g.81478720C>G GRCh38
NC_000008.10:g.82390955C>G , CM000670.1:g.82390955C>G GRCh37
NC_000008.9:g.82553510C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256104.5:c.*145G>C MANE Select ENSP00000256104.4:n.*145G>C
ENST00000256104.4:c.*145G>C ENSP00000256104.4:n.*145G>C
ENST00000518669.5:n.479G>C
ENST00000521734.1:n.753G>C
ENST00000522659.1:c.*420G>C ENSP00000428385.1:n.*420G>C
NM_001442.2:c.*145G>C NP_001433.1:n.*145G>C
XR_001745980.1:n.514+16746C>G
NM_001442.3:c.*145G>C MANE Select NP_001433.1:n.*145G>C