Canonical Allele Identifier: CA442013675

Gene: FGB

Linked Data

• dbSNP Id: rs1315666345
• gnomAD v2: 4-155490940-C-T
• gnomAD v4: 4-154569788-C-T
• MyVariant Identifiers: chr4:g.155490940C>T (hg19) ; chr4:g.154569788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569788C>T , CM000666.2:g.154569788C>T	GRCh38
NC_000004.11:g.155490940C>T , CM000666.1:g.155490940C>T	GRCh37
NC_000004.10:g.155710390C>T	NCBI36
NG_008833.1:g.11809C>T , LRG_558:g.11809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1233C>T MANE Select	ENSP00000306099.4:p.Asp411=
ENST00000302068.8:c.1233C>T	ENSP00000306099.4:p.Asp411=
ENST00000502545.5:n.939+481C>T
ENST00000509493.1:c.576C>T	ENSP00000426757.1:p.Asp192=
NM_001184741.1:c.1056C>T	NP_001171670.1:p.Asp352=
NM_005141.4:c.1233C>T , LRG_558t1:c.1233C>T	NP_005132.2:p.Asp411=
NM_001382759.1:c.1101C>T	NP_001369688.1:p.Asp367=
NM_001382760.1:c.1233C>T	NP_001369689.1:p.Asp411=
NM_001382761.1:c.1233C>T	NP_001369690.1:p.Asp411=
NM_001382762.1:c.933C>T	NP_001369691.1:p.Asp311=
NM_001382763.1:c.1224C>T	NP_001369692.1:p.Asp408=
NM_001382764.1:c.*7C>T	NP_001369693.1:n.*7C>T
NM_001382765.1:c.1220+13C>T	NP_001369694.1:n.1220+13C>T
NM_005141.5:c.1233C>T MANE Select	NP_005132.2:p.Asp411=