Canonical Allele Identifier: CA196572456
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs909218991
gnomAD v3: 9-94639442-C-G
gnomAD v4: 9-94639442-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639442C>G , CM000671.2:g.94639442C>G GRCh38
NC_000009.11:g.97401724C>G , CM000671.1:g.97401724C>G GRCh37
NC_000009.10:g.96441545C>G NCBI36
NG_008174.1:g.5808G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375326.9:c.-132G>C MANE Select ENSP00000364475.5:n.-132G>C
ENST00000375326.8:c.-132G>C ENSP00000364475.4:n.-132G>C
ENST00000414122.1:c.-83+602G>C ENSP00000411619.1:n.-83+602G>C
ENST00000415431.5:c.-24-108G>C ENSP00000408025.1:n.-24-108G>C
NM_000507.3:c.-132G>C NP_000498.2:n.-132G>C
NM_001127628.1:c.-24-108G>C NP_001121100.1:n.-24-108G>C
XM_006717005.2:c.-77+602G>C XP_006717068.1:n.-77+602G>C
XM_006717005.4:c.-77+602G>C XP_006717068.1:n.-77+602G>C
NM_000507.4:c.-132G>C MANE Select NP_000498.2:n.-132G>C
NM_001127628.2:c.-24-108G>C NP_001121100.1:n.-24-108G>C