Canonical Allele Identifier: CA2690769913
Gene: FBP1 HGNC NCBI

Linked Data

gnomAD v4: 9-94639125-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639125C>G , CM000671.2:g.94639125C>G GRCh38
NC_000009.11:g.97401407C>G , CM000671.1:g.97401407C>G GRCh37
NC_000009.10:g.96441228C>G NCBI36
NG_008174.1:g.6125G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.170+16G>C ENSP00000507547.1:n.170+16G>C
ENST00000375326.9:c.170+16G>C MANE Select ENSP00000364475.5:n.170+16G>C
ENST00000375326.8:c.170+16G>C ENSP00000364475.4:n.170+16G>C
ENST00000414122.1:c.-83+919G>C ENSP00000411619.1:n.-83+919G>C
ENST00000415431.5:c.170+16G>C ENSP00000408025.1:n.170+16G>C
NM_000507.3:c.170+16G>C NP_000498.2:n.170+16G>C
NM_001127628.1:c.170+16G>C NP_001121100.1:n.170+16G>C
XM_006717005.2:c.-77+919G>C XP_006717068.1:n.-77+919G>C
XM_006717005.4:c.-77+919G>C XP_006717068.1:n.-77+919G>C
NM_000507.4:c.170+16G>C MANE Select NP_000498.2:n.170+16G>C
NM_001127628.2:c.170+16G>C NP_001121100.1:n.170+16G>C