Canonical Allele Identifier: CA3114743

Gene: FGB

Linked Data

• ClinVar Variation Id: 259646
• ClinVar RCV Id: RCV000252670 ; RCV000860820 ; RCV001145328
• dbSNP Id: rs148950857
• ExAC: 4:155490946 C / T
• gnomAD v2: 4-155490946-C-T
• gnomAD v3: 4-154569794-C-T
• gnomAD v4: 4-154569794-C-T
• MyVariant Identifiers: chr4:g.155490946C>T (hg19) ; chr4:g.154569794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569794C>T , CM000666.2:g.154569794C>T	GRCh38
NC_000004.11:g.155490946C>T , CM000666.1:g.155490946C>T	GRCh37
NC_000004.10:g.155710396C>T	NCBI36
NG_008833.1:g.11815C>T , LRG_558:g.11815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1239C>T MANE Select	ENSP00000306099.4:p.Asp413=
ENST00000302068.8:c.1239C>T	ENSP00000306099.4:p.Asp413=
ENST00000502545.5:n.939+487C>T
ENST00000509493.1:c.582C>T	ENSP00000426757.1:p.Asp194=
NM_001184741.1:c.1062C>T	NP_001171670.1:p.Asp354=
NM_005141.4:c.1239C>T , LRG_558t1:c.1239C>T	NP_005132.2:p.Asp413=
NM_001382759.1:c.1107C>T	NP_001369688.1:p.Asp369=
NM_001382760.1:c.1239C>T	NP_001369689.1:p.Asp413=
NM_001382761.1:c.1239C>T	NP_001369690.1:p.Asp413=
NM_001382762.1:c.939C>T	NP_001369691.1:p.Asp313=
NM_001382763.1:c.1230C>T	NP_001369692.1:p.Asp410=
NM_001382764.1:c.*13C>T	NP_001369693.1:n.*13C>T
NM_001382765.1:c.1220+19C>T	NP_001369694.1:n.1220+19C>T
NM_005141.5:c.1239C>T MANE Select	NP_005132.2:p.Asp413=