Canonical Allele Identifier: CA3114703

Gene: FGB

Linked Data

• ClinVar Variation Id: 2078261
• ClinVar RCV Id: RCV002988539
• dbSNP Id: rs751610009
• ExAC: 4:155490733 A / G
• gnomAD v2: 4-155490733-A-G
• gnomAD v3: 4-154569581-A-G
• gnomAD v4: 4-154569581-A-G
• MyVariant Identifiers: chr4:g.155490733A>G (hg19) ; chr4:g.154569581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569581A>G , CM000666.2:g.154569581A>G	GRCh38
NC_000004.11:g.155490733A>G , CM000666.1:g.155490733A>G	GRCh37
NC_000004.10:g.155710183A>G	NCBI36
NG_008833.1:g.11602A>G , LRG_558:g.11602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1026A>G MANE Select	ENSP00000306099.4:p.Ile342Met
ENST00000302068.8:c.1026A>G	ENSP00000306099.4:p.Ile342Met
ENST00000502545.5:n.939+274A>G
ENST00000509493.1:c.369A>G	ENSP00000426757.1:p.Ile123Met
NM_001184741.1:c.849A>G	NP_001171670.1:p.Ile283Met
NM_005141.4:c.1026A>G , LRG_558t1:c.1026A>G	NP_005132.2:p.Ile342Met
NM_001382759.1:c.894A>G	NP_001369688.1:p.Ile298Met
NM_001382760.1:c.1026A>G	NP_001369689.1:p.Ile342Met
NM_001382761.1:c.1026A>G	NP_001369690.1:p.Ile342Met
NM_001382762.1:c.746-20A>G	NP_001369691.1:n.746-20A>G
NM_001382763.1:c.1017A>G	NP_001369692.1:p.Ile339Met
NM_001382764.1:c.1026A>G	NP_001369693.1:p.Ile342Met
NM_001382765.1:c.1026A>G	NP_001369694.1:p.Ile342Met
NM_005141.5:c.1026A>G MANE Select	NP_005132.2:p.Ile342Met