Canonical Allele Identifier: CA126431

Gene: FGB

Linked Data

• ClinVar Variation Id: 16383
• ClinVar RCV Id: RCV000017807
• dbSNP Id: rs121909617
• MyVariant Identifiers: chr4:g.155490800G>A (hg19) ; chr4:g.154569648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569648G>A , CM000666.2:g.154569648G>A	GRCh38
NC_000004.11:g.155490800G>A , CM000666.1:g.155490800G>A	GRCh37
NC_000004.10:g.155710250G>A	NCBI36
NG_008833.1:g.11669G>A , LRG_558:g.11669G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1093G>A MANE Select	ENSP00000306099.4:p.Ala365Thr
ENST00000302068.8:c.1093G>A	ENSP00000306099.4:p.Ala365Thr
ENST00000502545.5:n.939+341G>A
ENST00000509493.1:c.436G>A	ENSP00000426757.1:p.Ala146Thr
NM_001184741.1:c.916G>A	NP_001171670.1:p.Ala306Thr
NM_005141.4:c.1093G>A , LRG_558t1:c.1093G>A	NP_005132.2:p.Ala365Thr
NM_001382759.1:c.961G>A	NP_001369688.1:p.Ala321Thr
NM_001382760.1:c.1093G>A	NP_001369689.1:p.Ala365Thr
NM_001382761.1:c.1093G>A	NP_001369690.1:p.Ala365Thr
NM_001382762.1:c.793G>A	NP_001369691.1:p.Ala265Thr
NM_001382763.1:c.1084G>A	NP_001369692.1:p.Ala362Thr
NM_001382764.1:c.1080+13G>A	NP_001369693.1:n.1080+13G>A
NM_001382765.1:c.1093G>A	NP_001369694.1:p.Ala365Thr
NM_005141.5:c.1093G>A MANE Select	NP_005132.2:p.Ala365Thr