Canonical Allele Identifier: CA196550965
Gene: FBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2893258
ClinVar RCV Id: RCV003600979
dbSNP Id: rs1055948098
gnomAD v2: 9-97365831-G-A
gnomAD v3: 9-94603549-G-A
gnomAD v4: 9-94603549-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94603549G>A , CM000671.2:g.94603549G>A GRCh38
NC_000009.11:g.97365831G>A , CM000671.1:g.97365831G>A GRCh37
NC_000009.10:g.96405652G>A NCBI36
NG_008174.1:g.41701C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.1009C>T ENSP00000507547.1:n.1009C>T
ENST00000375326.9:c.849C>T MANE Select ENSP00000364475.5:p.Asn283=
ENST00000648117.1:c.654C>T ENSP00000498145.1:p.Asn218=
ENST00000375326.8:c.849C>T ENSP00000364475.4:p.Asn283=
ENST00000415431.5:c.849C>T ENSP00000408025.1:p.Asn283=
NM_000507.3:c.849C>T NP_000498.2:p.Asn283=
NM_001127628.1:c.849C>T NP_001121100.1:p.Asn283=
XM_006717005.2:c.603C>T XP_006717068.1:p.Asn201=
XM_006717005.4:c.603C>T XP_006717068.1:p.Asn201=
NM_000507.4:c.849C>T MANE Select NP_000498.2:p.Asn283=
NM_001127628.2:c.849C>T NP_001121100.1:p.Asn283=