Canonical Allele Identifier: CA1797412219
Gene: FABP4 HGNC NCBI

Linked Data

dbSNP Id: rs1808010218
gnomAD v4: 8-81478743-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81478743G>A , CM000670.2:g.81478743G>A GRCh38
NC_000008.10:g.82390978G>A , CM000670.1:g.82390978G>A GRCh37
NC_000008.9:g.82553533G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256104.5:c.*122C>T MANE Select ENSP00000256104.4:n.*122C>T
ENST00000256104.4:c.*122C>T ENSP00000256104.4:n.*122C>T
ENST00000518669.5:n.456C>T
ENST00000521734.1:n.730C>T
ENST00000522659.1:c.*397C>T ENSP00000428385.1:n.*397C>T
NM_001442.2:c.*122C>T NP_001433.1:n.*122C>T
XR_001745980.1:n.514+16769G>A
NM_001442.3:c.*122C>T MANE Select NP_001433.1:n.*122C>T
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