Canonical Allele Identifier: CA358515582
Gene: FGB HGNC NCBI

Linked Data

ClinVar Variation Id: 3094592
ClinVar RCV Id: RCV004393929

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569780G>A , CM000666.2:g.154569780G>A GRCh38
NC_000004.11:g.155490932G>A , CM000666.1:g.155490932G>A GRCh37
NC_000004.10:g.155710382G>A NCBI36
NG_008833.1:g.11801G>A , LRG_558:g.11801G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302068.9:c.1225G>A MANE Select ENSP00000306099.4:p.Asp409Asn
ENST00000302068.8:c.1225G>A ENSP00000306099.4:p.Asp409Asn
ENST00000502545.5:n.939+473G>A
ENST00000509493.1:c.568G>A ENSP00000426757.1:p.Asp190Asn
NM_001184741.1:c.1048G>A NP_001171670.1:p.Asp350Asn
NM_005141.4:c.1225G>A , LRG_558t1:c.1225G>A NP_005132.2:p.Asp409Asn
NM_001382759.1:c.1093G>A NP_001369688.1:p.Asp365Asn
NM_001382760.1:c.1225G>A NP_001369689.1:p.Asp409Asn
NM_001382761.1:c.1225G>A NP_001369690.1:p.Asp409Asn
NM_001382762.1:c.925G>A NP_001369691.1:p.Asp309Asn
NM_001382763.1:c.1216G>A NP_001369692.1:p.Asp406Asn
NM_001382764.1:c.1088G>A NP_001369693.1:p.Ter363=
NM_001382765.1:c.1220+5G>A NP_001369694.1:n.1220+5G>A
NM_005141.5:c.1225G>A MANE Select NP_005132.2:p.Asp409Asn