Canonical Allele Identifier: CA3114470

Gene: FGB

Linked Data

• dbSNP Id: rs144972538
• ExAC: 4:155487060 G / A
• gnomAD v2: 4-155487060-G-A
• gnomAD v3: 4-154565908-G-A
• gnomAD v4: 4-154565908-G-A
• MyVariant Identifiers: chr4:g.155487060G>A (hg19) ; chr4:g.154565908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154565908G>A , CM000666.2:g.154565908G>A	GRCh38
NC_000004.11:g.155487060G>A , CM000666.1:g.155487060G>A	GRCh37
NC_000004.10:g.155706510G>A	NCBI36
NG_008833.1:g.7929G>A , LRG_558:g.7929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.215G>A MANE Select	ENSP00000306099.4:p.Arg72Gln
ENST00000302068.8:c.215G>A	ENSP00000306099.4:p.Arg72Gln
ENST00000425838.5:c.*127G>A	ENSP00000398719.1:n.*127G>A
ENST00000473984.1:n.128G>A
ENST00000497097.5:n.222G>A
ENST00000498375.2:n.845G>A
ENST00000502545.5:n.196G>A
ENST00000509493.1:c.-167-1685G>A	ENSP00000426757.1:n.-167-1685G>A
NM_001184741.1:c.165+50G>A	NP_001171670.1:n.165+50G>A
NM_005141.4:c.215G>A , LRG_558t1:c.215G>A	NP_005132.2:p.Arg72Gln
NM_001382759.1:c.215G>A	NP_001369688.1:p.Arg72Gln
NM_001382760.1:c.215G>A	NP_001369689.1:p.Arg72Gln
NM_001382761.1:c.215G>A	NP_001369690.1:p.Arg72Gln
NM_001382762.1:c.215G>A	NP_001369691.1:p.Arg72Gln
NM_001382763.1:c.215G>A	NP_001369692.1:p.Arg72Gln
NM_001382764.1:c.215G>A	NP_001369693.1:p.Arg72Gln
NM_001382765.1:c.215G>A	NP_001369694.1:p.Arg72Gln
NM_005141.5:c.215G>A MANE Select	NP_005132.2:p.Arg72Gln