Canonical Allele Identifier: CA126450

Gene: FGB

Linked Data

• ClinVar Variation Id: 16395
• ClinVar RCV Id: RCV000017821
• dbSNP Id: rs121909624
• MyVariant Identifiers: chr4:g.155488859T>A (hg19) ; chr4:g.154567707T>A (hg38)
• PubMed: PMID:15070683

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000302068.9:c.605T>A MANE Select	ENSP00000306099.4:p.Leu202Gln
ENST00000302068.8:c.605T>A	ENSP00000306099.4:p.Leu202Gln
ENST00000473984.1:n.518T>A
ENST00000502545.5:n.586T>A
ENST00000509493.1:c.-53T>A	ENSP00000426757.1:n.-53T>A
NM_001184741.1:c.428T>A	NP_001171670.1:p.Leu143Gln
NM_005141.4:c.605T>A , LRG_558t1:c.605T>A	NP_005132.2:p.Leu202Gln
NM_001382759.1:c.473T>A	NP_001369688.1:p.Leu158Gln
NM_001382760.1:c.605T>A	NP_001369689.1:p.Leu202Gln
NM_001382761.1:c.605T>A	NP_001369690.1:p.Leu202Gln
NM_001382762.1:c.605T>A	NP_001369691.1:p.Leu202Gln
NM_001382763.1:c.605T>A	NP_001369692.1:p.Leu202Gln
NM_001382764.1:c.605T>A	NP_001369693.1:p.Leu202Gln
NM_001382765.1:c.605T>A	NP_001369694.1:p.Leu202Gln
NM_005141.5:c.605T>A MANE Select	NP_005132.2:p.Leu202Gln