Canonical Allele Identifier: CA196552431
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs111437558
gnomAD v2: 9-97367738-C-G
gnomAD v4: 9-94605456-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94605456C>G , CM000671.2:g.94605456C>G GRCh38
NC_000009.11:g.97367738C>G , CM000671.1:g.97367738C>G GRCh37
NC_000009.10:g.96407559C>G NCBI36
NG_008174.1:g.39794G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.985+1G>C ENSP00000507547.1:n.985+1G>C
ENST00000375326.9:c.825+1G>C MANE Select ENSP00000364475.5:n.825+1G>C
ENST00000648117.1:c.630+1G>C ENSP00000498145.1:n.630+1G>C
ENST00000375326.8:c.825+1G>C ENSP00000364475.4:n.825+1G>C
ENST00000415431.5:c.825+1G>C ENSP00000408025.1:n.825+1G>C
NM_000507.3:c.825+1G>C NP_000498.2:n.825+1G>C
NM_001127628.1:c.825+1G>C NP_001121100.1:n.825+1G>C
XM_006717005.2:c.579+1G>C XP_006717068.1:n.579+1G>C
XM_006717005.4:c.579+1G>C XP_006717068.1:n.579+1G>C
NM_000507.4:c.825+1G>C MANE Select NP_000498.2:n.825+1G>C
NM_001127628.2:c.825+1G>C NP_001121100.1:n.825+1G>C