Canonical Allele Identifier: CA358511545
Gene: FGB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154567707T>C
GRCh37 chr4:g.155488859T>C
Revel Score:
ENST00000302068 (MANE Select) 0.768
ENST00000537843 0.768
gnomAD v3:
4:154567707 T / C
gnomAD v4:
chr4-154567707-T-C
Joint Max Group AF 0.00001221 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154567707T>C , CM000666.2:g.154567707T>C GRCh38
NC_000004.11:g.155488859T>C , CM000666.1:g.155488859T>C GRCh37
NC_000004.10:g.155708309T>C NCBI36
NG_008833.1:g.9728T>C , LRG_558:g.9728T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.605T>C MANE Select ENSP00000306099.4:p.Leu202Pro
ENST00000302068.8:c.605T>C ENSP00000306099.4:p.Leu202Pro
ENST00000473984.1:n.518T>C
ENST00000502545.5:n.586T>C
ENST00000509493.1:c.-53T>C ENSP00000426757.1:n.-53T>C
NM_001184741.1:c.428T>C NP_001171670.1:p.Leu143Pro
NM_005141.4:c.605T>C , LRG_558t1:c.605T>C NP_005132.2:p.Leu202Pro
NM_001382759.1:c.473T>C NP_001369688.1:p.Leu158Pro
NM_001382760.1:c.605T>C NP_001369689.1:p.Leu202Pro
NM_001382761.1:c.605T>C NP_001369690.1:p.Leu202Pro
NM_001382762.1:c.605T>C NP_001369691.1:p.Leu202Pro
NM_001382763.1:c.605T>C NP_001369692.1:p.Leu202Pro
NM_001382764.1:c.605T>C NP_001369693.1:p.Leu202Pro
NM_001382765.1:c.605T>C NP_001369694.1:p.Leu202Pro
NM_005141.5:c.605T>C MANE Select NP_005132.2:p.Leu202Pro
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