Canonical Allele Identifier: CA199252

Gene: FIBP

Linked Data

• ClinVar Variation Id: 189359
• ClinVar RCV Id: RCV000169762 ; RCV000240847
• dbSNP Id: rs786204849
• gnomAD v3: 11-65885181-G-A
• gnomAD v4: 11-65885181-G-A
• MyVariant Identifiers: chr11:g.65652652G>A (hg19) ; chr11:g.65885181G>A (hg38)
• PubMed: PMID:26660953

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65885181G>A , CM000673.2:g.65885181G>A	GRCh38
NC_000011.9:g.65652652G>A , CM000673.1:g.65652652G>A	GRCh37
NC_000011.8:g.65409228G>A	NCBI36
NG_047103.1:g.8359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357519.9:c.652C>T MANE Select	ENSP00000350124.5:p.Gln218Ter
ENST00000338369.6:c.673C>T	ENSP00000344572.2:p.Gln225Ter
ENST00000357519.8:c.652C>T	ENSP00000350124.4:p.Gln218Ter
ENST00000525765.5:n.101-45C>T
ENST00000531115.5:c.57C>T
ENST00000532229.1:c.*131C>T	ENSP00000433683.1:n.*131C>T
ENST00000532934.5:n.187C>T
ENST00000533037.5:c.*110C>T	ENSP00000431414.1:n.*110C>T
ENST00000533045.5:c.643C>T	ENSP00000434043.1:p.Gln215Ter
ENST00000534032.5:n.49C>T
NM_004214.4:c.652C>T	NP_004205.2:p.Gln218Ter
NM_198897.1:c.673C>T	NP_942600.1:p.Gln225Ter
XR_950100.1:n.768C>T
XM_024448763.1:c.322C>T	XP_024304531.1:p.Gln108Ter
XR_001748030.2:n.744C>T
XR_950100.2:n.765C>T
NM_004214.5:c.652C>T MANE Select	NP_004205.2:p.Gln218Ter
NM_198897.2:c.673C>T	NP_942600.1:p.Gln225Ter