Canonical Allele Identifier: CA3114629
Gene: FGB HGNC NCBI

Linked Data

ClinVar Variation Id: 517313
ClinVar RCV Id: RCV000606613 RCV000660563 RCV000851887 RCV000851949 RCV000861598 RCV001270563 RCV002245051 RCV002280881 RCV003313786 RCV003403425
dbSNP Id: rs6054
ExAC: 4:155489608 C / T
gnomAD v2: 4-155489608-C-T
gnomAD v3: 4-154568456-C-T
gnomAD v4: 4-154568456-C-T
MyVariant Identifiers: chr4:g.155489608C>T (hg19) chr4:g.154568456C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154568456C>T , CM000666.2:g.154568456C>T GRCh38
NC_000004.11:g.155489608C>T , CM000666.1:g.155489608C>T GRCh37
NC_000004.10:g.155709058C>T NCBI36
NG_008833.1:g.10477C>T , LRG_558:g.10477C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302068.9:c.794C>T MANE Select ENSP00000306099.4:p.Pro265Leu
ENST00000302068.8:c.794C>T ENSP00000306099.4:p.Pro265Leu
ENST00000502545.5:n.775C>T
ENST00000509493.1:c.137C>T ENSP00000426757.1:p.Pro46Leu
NM_001184741.1:c.617C>T NP_001171670.1:p.Pro206Leu
NM_005141.4:c.794C>T , LRG_558t1:c.794C>T NP_005132.2:p.Pro265Leu
NM_001382759.1:c.662C>T NP_001369688.1:p.Pro221Leu
NM_001382760.1:c.794C>T NP_001369689.1:p.Pro265Leu
NM_001382761.1:c.794C>T NP_001369690.1:p.Pro265Leu
NM_001382762.1:c.745+49C>T NP_001369691.1:n.745+49C>T
NM_001382763.1:c.794C>T NP_001369692.1:p.Pro265Leu
NM_001382764.1:c.794C>T NP_001369693.1:p.Pro265Leu
NM_001382765.1:c.794C>T NP_001369694.1:p.Pro265Leu
NM_005141.5:c.794C>T MANE Select NP_005132.2:p.Pro265Leu
Search 100 bp 5'
Search 100 bp 3'