Canonical Allele Identifier: CA196572468
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1036417440
gnomAD v2: 9-97401736-C-T
gnomAD v3: 9-94639454-C-T
gnomAD v4: 9-94639454-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639454C>T , CM000671.2:g.94639454C>T GRCh38
NC_000009.11:g.97401736C>T , CM000671.1:g.97401736C>T GRCh37
NC_000009.10:g.96441557C>T NCBI36
NG_008174.1:g.5796G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375326.9:c.-144G>A MANE Select ENSP00000364475.5:n.-144G>A
ENST00000375326.8:c.-144G>A ENSP00000364475.4:n.-144G>A
ENST00000414122.1:c.-83+590G>A ENSP00000411619.1:n.-83+590G>A
ENST00000415431.5:c.-24-120G>A ENSP00000408025.1:n.-24-120G>A
NM_000507.3:c.-144G>A NP_000498.2:n.-144G>A
NM_001127628.1:c.-24-120G>A NP_001121100.1:n.-24-120G>A
XM_006717005.2:c.-77+590G>A XP_006717068.1:n.-77+590G>A
XM_006717005.4:c.-77+590G>A XP_006717068.1:n.-77+590G>A
NM_000507.4:c.-144G>A MANE Select NP_000498.2:n.-144G>A
NM_001127628.2:c.-24-120G>A NP_001121100.1:n.-24-120G>A