Canonical Allele Identifier: CA253858
Gene: FLNB HGNC NCBI

Linked Data

ClinVar Variation Id: 6402
ClinVar RCV Id: RCV000006773 RCV000508566
dbSNP Id: rs28937587
MyVariant Identifiers: chr3:g.58095354G>C (hg19) chr3:g.58109627G>C (hg38)
PubMed: PMID:14991055
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58109627G>C , CM000665.2:g.58109627G>C GRCh38
NC_000003.11:g.58095354G>C , CM000665.1:g.58095354G>C GRCh37
NC_000003.10:g.58070394G>C NCBI36
NG_012801.1:g.106228G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682868.1:n.2394G>C
ENST00000682871.1:c.2251G>C ENSP00000507805.1:p.Gly751Arg
ENST00000684107.1:c.*783G>C ENSP00000507440.1:n.*783G>C
ENST00000684506.1:c.*783G>C ENSP00000507728.1:n.*783G>C
ENST00000684517.1:c.*783G>C ENSP00000507828.1:n.*783G>C
ENST00000684607.1:c.2251G>C ENSP00000508224.1:p.Gly751Arg
ENST00000295956.9:c.2251G>C MANE Select ENSP00000295956.5:p.Gly751Arg
ENST00000295956.8:c.2251G>C ENSP00000295956.4:p.Gly751Arg
ENST00000358537.7:c.2251G>C ENSP00000351339.3:p.Gly751Arg
ENST00000429972.6:c.2251G>C ENSP00000415599.2:p.Gly751Arg
ENST00000490882.5:c.2251G>C ENSP00000420213.1:p.Gly751Arg
ENST00000493452.5:c.1744G>C ENSP00000418510.1:p.Gly582Arg
NM_001164317.1:c.2251G>C NP_001157789.1:p.Gly751Arg
NM_001164318.1:c.2251G>C NP_001157790.1:p.Gly751Arg
NM_001164319.1:c.2251G>C NP_001157791.1:p.Gly751Arg
NM_001457.3:c.2251G>C NP_001448.2:p.Gly751Arg
XM_005264977.1:c.2251G>C XP_005265034.1:p.Gly751Arg
XM_005264978.1:c.2251G>C XP_005265035.1:p.Gly751Arg
XM_005264981.1:c.2251G>C XP_005265038.1:p.Gly751Arg
XR_940396.1:n.2396G>C
XM_005264978.2:c.2251G>C XP_005265035.1:p.Gly751Arg
XR_001740065.1:n.2396G>C
XR_940396.2:n.2396G>C
NM_001164317.2:c.2251G>C NP_001157789.1:p.Gly751Arg
NM_001164318.2:c.2251G>C NP_001157790.1:p.Gly751Arg
NM_001164319.2:c.2251G>C NP_001157791.1:p.Gly751Arg
NM_001457.4:c.2251G>C MANE Select NP_001448.2:p.Gly751Arg
Search 100 bp 5'
Search 100 bp 3'