Canonical Allele Identifier: CA3114503

Gene: FGB

Linked Data

• ClinVar Variation Id: 259647
• ClinVar RCV Id: RCV000248415
• dbSNP Id: rs757471901
• ExAC: 4:155487625 T / C
• gnomAD v2: 4-155487625-T-C
• gnomAD v3: 4-154566473-T-C
• gnomAD v4: 4-154566473-T-C
• MyVariant Identifiers: chr4:g.155487625T>C (hg19) ; chr4:g.154566473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154566473T>C , CM000666.2:g.154566473T>C	GRCh38
NC_000004.11:g.155487625T>C , CM000666.1:g.155487625T>C	GRCh37
NC_000004.10:g.155707075T>C	NCBI36
NG_008833.1:g.8494T>C , LRG_558:g.8494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302068.9:c.307-16T>C MANE Select	ENSP00000306099.4:n.307-16T>C
ENST00000302068.8:c.307-16T>C	ENSP00000306099.4:n.307-16T>C
ENST00000425838.5:c.*219-16T>C	ENSP00000398719.1:n.*219-16T>C
ENST00000473984.1:n.220-16T>C
ENST00000497097.5:n.314-16T>C
ENST00000498375.2:n.937-16T>C
ENST00000502545.5:n.288-16T>C
ENST00000509493.1:c.-167-1120T>C	ENSP00000426757.1:n.-167-1120T>C
NM_001184741.1:c.166-52T>C	NP_001171670.1:n.166-52T>C
NM_005141.4:c.307-16T>C , LRG_558t1:c.307-16T>C	NP_005132.2:n.307-16T>C
NM_001382759.1:c.307-148T>C	NP_001369688.1:n.307-148T>C
NM_001382760.1:c.307-16T>C	NP_001369689.1:n.307-16T>C
NM_001382761.1:c.307-16T>C	NP_001369690.1:n.307-16T>C
NM_001382762.1:c.307-16T>C	NP_001369691.1:n.307-16T>C
NM_001382763.1:c.307-16T>C	NP_001369692.1:n.307-16T>C
NM_001382764.1:c.307-16T>C	NP_001369693.1:n.307-16T>C
NM_001382765.1:c.307-16T>C	NP_001369694.1:n.307-16T>C
NM_005141.5:c.307-16T>C MANE Select	NP_005132.2:n.307-16T>C