Canonical Allele Identifier: CA196571822
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs963849141
gnomAD v3: 9-94638830-G-A
gnomAD v4: 9-94638830-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94638830G>A , CM000671.2:g.94638830G>A GRCh38
NC_000009.11:g.97401112G>A , CM000671.1:g.97401112G>A GRCh37
NC_000009.10:g.96440933G>A NCBI36
NG_008174.1:g.6420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.170+311C>T ENSP00000507547.1:n.170+311C>T
ENST00000375326.9:c.170+311C>T MANE Select ENSP00000364475.5:n.170+311C>T
ENST00000375326.8:c.170+311C>T ENSP00000364475.4:n.170+311C>T
ENST00000414122.1:c.-83+1214C>T ENSP00000411619.1:n.-83+1214C>T
ENST00000415431.5:c.170+311C>T ENSP00000408025.1:n.170+311C>T
NM_000507.3:c.170+311C>T NP_000498.2:n.170+311C>T
NM_001127628.1:c.170+311C>T NP_001121100.1:n.170+311C>T
XM_006717005.2:c.-77+1214C>T XP_006717068.1:n.-77+1214C>T
XM_006717005.4:c.-77+1214C>T XP_006717068.1:n.-77+1214C>T
NM_000507.4:c.170+311C>T MANE Select NP_000498.2:n.170+311C>T
NM_001127628.2:c.170+311C>T NP_001121100.1:n.170+311C>T