Canonical Allele Identifier: CA2600260887
Gene: FBP1 HGNC NCBI

Linked Data

gnomAD v3: 9-94639433-G-A
gnomAD v4: 9-94639433-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639433G>A , CM000671.2:g.94639433G>A GRCh38
NC_000009.11:g.97401715G>A , CM000671.1:g.97401715G>A GRCh37
NC_000009.10:g.96441536G>A NCBI36
NG_008174.1:g.5817C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375326.9:c.-123C>T MANE Select ENSP00000364475.5:n.-123C>T
ENST00000375326.8:c.-123C>T ENSP00000364475.4:n.-123C>T
ENST00000414122.1:c.-83+611C>T ENSP00000411619.1:n.-83+611C>T
ENST00000415431.5:c.-24-99C>T ENSP00000408025.1:n.-24-99C>T
NM_000507.3:c.-123C>T NP_000498.2:n.-123C>T
NM_001127628.1:c.-24-99C>T NP_001121100.1:n.-24-99C>T
XM_006717005.2:c.-77+611C>T XP_006717068.1:n.-77+611C>T
XM_006717005.4:c.-77+611C>T XP_006717068.1:n.-77+611C>T
NM_000507.4:c.-123C>T MANE Select NP_000498.2:n.-123C>T
NM_001127628.2:c.-24-99C>T NP_001121100.1:n.-24-99C>T