Canonical Allele Identifier: CA358515569

Gene: FGB

Linked Data

• dbSNP Id: rs1730341817
• gnomAD v4: 4-154569777-T-A
• MyVariant Identifiers: chr4:g.155490929T>A (hg19) ; chr4:g.154569777T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569777T>A , CM000666.2:g.154569777T>A	GRCh38
NC_000004.11:g.155490929T>A , CM000666.1:g.155490929T>A	GRCh37
NC_000004.10:g.155710379T>A	NCBI36
NG_008833.1:g.11798T>A , LRG_558:g.11798T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1222T>A MANE Select	ENSP00000306099.4:p.Tyr408Asn
ENST00000302068.8:c.1222T>A	ENSP00000306099.4:p.Tyr408Asn
ENST00000502545.5:n.939+470T>A
ENST00000509493.1:c.565T>A	ENSP00000426757.1:p.Tyr189Asn
NM_001184741.1:c.1045T>A	NP_001171670.1:p.Tyr349Asn
NM_005141.4:c.1222T>A , LRG_558t1:c.1222T>A	NP_005132.2:p.Tyr408Asn
NM_001382759.1:c.1090T>A	NP_001369688.1:p.Tyr364Asn
NM_001382760.1:c.1222T>A	NP_001369689.1:p.Tyr408Asn
NM_001382761.1:c.1222T>A	NP_001369690.1:p.Tyr408Asn
NM_001382762.1:c.922T>A	NP_001369691.1:p.Tyr308Asn
NM_001382763.1:c.1213T>A	NP_001369692.1:p.Tyr405Asn
NM_001382764.1:c.1085T>A	NP_001369693.1:p.Val362Glu
NM_001382765.1:c.1220+2T>A	NP_001369694.1:n.1220+2T>A
NM_005141.5:c.1222T>A MANE Select	NP_005132.2:p.Tyr408Asn