Canonical Allele Identifier: CA108751781

Gene: FGB

Linked Data

• dbSNP Id: rs776578431
• gnomAD v2: 4-155490941-A-T
• gnomAD v3: 4-154569789-A-T
• gnomAD v4: 4-154569789-A-T
• MyVariant Identifiers: chr4:g.155490941A>T (hg19) ; chr4:g.154569789A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569789A>T , CM000666.2:g.154569789A>T	GRCh38
NC_000004.11:g.155490941A>T , CM000666.1:g.155490941A>T	GRCh37
NC_000004.10:g.155710391A>T	NCBI36
NG_008833.1:g.11810A>T , LRG_558:g.11810A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1234A>T MANE Select	ENSP00000306099.4:p.Asn412Tyr
ENST00000302068.8:c.1234A>T	ENSP00000306099.4:p.Asn412Tyr
ENST00000502545.5:n.939+482A>T
ENST00000509493.1:c.577A>T	ENSP00000426757.1:p.Asn193Tyr
NM_001184741.1:c.1057A>T	NP_001171670.1:p.Asn353Tyr
NM_005141.4:c.1234A>T , LRG_558t1:c.1234A>T	NP_005132.2:p.Asn412Tyr
NM_001382759.1:c.1102A>T	NP_001369688.1:p.Asn368Tyr
NM_001382760.1:c.1234A>T	NP_001369689.1:p.Asn412Tyr
NM_001382761.1:c.1234A>T	NP_001369690.1:p.Asn412Tyr
NM_001382762.1:c.934A>T	NP_001369691.1:p.Asn312Tyr
NM_001382763.1:c.1225A>T	NP_001369692.1:p.Asn409Tyr
NM_001382764.1:c.*8A>T	NP_001369693.1:n.*8A>T
NM_001382765.1:c.1220+14A>T	NP_001369694.1:n.1220+14A>T
NM_005141.5:c.1234A>T MANE Select	NP_005132.2:p.Asn412Tyr