Canonical Allele Identifier: CA3114729

Gene: FGB

Linked Data

• dbSNP Id: rs778439014
• ExAC: 4:155490850 T / C
• gnomAD v2: 4-155490850-T-C
• gnomAD v4: 4-154569698-T-C
• MyVariant Identifiers: chr4:g.155490850T>C (hg19) ; chr4:g.154569698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154569698T>C , CM000666.2:g.154569698T>C	GRCh38
NC_000004.11:g.155490850T>C , CM000666.1:g.155490850T>C	GRCh37
NC_000004.10:g.155710300T>C	NCBI36
NG_008833.1:g.11719T>C , LRG_558:g.11719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.1143T>C MANE Select	ENSP00000306099.4:p.Asn381=
ENST00000302068.8:c.1143T>C	ENSP00000306099.4:p.Asn381=
ENST00000502545.5:n.939+391T>C
ENST00000509493.1:c.486T>C	ENSP00000426757.1:p.Asn162=
NM_001184741.1:c.966T>C	NP_001171670.1:p.Asn322=
NM_005141.4:c.1143T>C , LRG_558t1:c.1143T>C	NP_005132.2:p.Asn381=
NM_001382759.1:c.1011T>C	NP_001369688.1:p.Asn337=
NM_001382760.1:c.1143T>C	NP_001369689.1:p.Asn381=
NM_001382761.1:c.1143T>C	NP_001369690.1:p.Asn381=
NM_001382762.1:c.843T>C	NP_001369691.1:p.Asn281=
NM_001382763.1:c.1134T>C	NP_001369692.1:p.Asn378=
NM_001382764.1:c.1080+63T>C	NP_001369693.1:n.1080+63T>C
NM_001382765.1:c.1143T>C	NP_001369694.1:p.Asn381=
NM_005141.5:c.1143T>C MANE Select	NP_005132.2:p.Asn381=