Canonical Allele Identifier: CA196571901
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1054273096
gnomAD v3: 9-94638978-T-C
gnomAD v4: 9-94638978-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94638978T>C , CM000671.2:g.94638978T>C GRCh38
NC_000009.11:g.97401260T>C , CM000671.1:g.97401260T>C GRCh37
NC_000009.10:g.96441081T>C NCBI36
NG_008174.1:g.6272A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.170+163A>G ENSP00000507547.1:n.170+163A>G
ENST00000375326.9:c.170+163A>G MANE Select ENSP00000364475.5:n.170+163A>G
ENST00000375326.8:c.170+163A>G ENSP00000364475.4:n.170+163A>G
ENST00000414122.1:c.-83+1066A>G ENSP00000411619.1:n.-83+1066A>G
ENST00000415431.5:c.170+163A>G ENSP00000408025.1:n.170+163A>G
NM_000507.3:c.170+163A>G NP_000498.2:n.170+163A>G
NM_001127628.1:c.170+163A>G NP_001121100.1:n.170+163A>G
XM_006717005.2:c.-77+1066A>G XP_006717068.1:n.-77+1066A>G
XM_006717005.4:c.-77+1066A>G XP_006717068.1:n.-77+1066A>G
NM_000507.4:c.170+163A>G MANE Select NP_000498.2:n.170+163A>G
NM_001127628.2:c.170+163A>G NP_001121100.1:n.170+163A>G