Canonical Allele Identifier: CA358515231

Gene: FGB

Linked Data

• ClinVar Variation Id: 2498020
• ClinVar RCV Id: RCV003219086
• gnomAD v4: 4-154569688-C-T
• MyVariant Identifiers: chr4:g.155490840C>T (hg19) ; chr4:g.154569688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569688C>T , CM000666.2:g.154569688C>T	GRCh38
NC_000004.11:g.155490840C>T , CM000666.1:g.155490840C>T	GRCh37
NC_000004.10:g.155710290C>T	NCBI36
NG_008833.1:g.11709C>T , LRG_558:g.11709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1133C>T MANE Select	ENSP00000306099.4:p.Thr378Ile
ENST00000302068.8:c.1133C>T	ENSP00000306099.4:p.Thr378Ile
ENST00000502545.5:n.939+381C>T
ENST00000509493.1:c.476C>T	ENSP00000426757.1:p.Thr159Ile
NM_001184741.1:c.956C>T	NP_001171670.1:p.Thr319Ile
NM_005141.4:c.1133C>T , LRG_558t1:c.1133C>T	NP_005132.2:p.Thr378Ile
NM_001382759.1:c.1001C>T	NP_001369688.1:p.Thr334Ile
NM_001382760.1:c.1133C>T	NP_001369689.1:p.Thr378Ile
NM_001382761.1:c.1133C>T	NP_001369690.1:p.Thr378Ile
NM_001382762.1:c.833C>T	NP_001369691.1:p.Thr278Ile
NM_001382763.1:c.1124C>T	NP_001369692.1:p.Thr375Ile
NM_001382764.1:c.1080+53C>T	NP_001369693.1:n.1080+53C>T
NM_001382765.1:c.1133C>T	NP_001369694.1:p.Thr378Ile
NM_005141.5:c.1133C>T MANE Select	NP_005132.2:p.Thr378Ile