Canonical Allele Identifier: CA253857
Gene: FLNB HGNC NCBI

Linked Data

ClinVar Variation Id: 6401
ClinVar RCV Id: RCV000006771 RCV000006772
dbSNP Id: rs121908895
MyVariant Identifiers: chr3:g.58064506A>G (hg19) chr3:g.58078779A>G (hg38)
PubMed: PMID:14991055
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58078779A>G , CM000665.2:g.58078779A>G GRCh38
NC_000003.11:g.58064506A>G , CM000665.1:g.58064506A>G GRCh37
NC_000003.10:g.58039546A>G NCBI36
NG_012801.1:g.75380A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682097.1:c.604A>G ENSP00000508183.1:p.Met202Val
ENST00000682868.1:n.747A>G
ENST00000682871.1:c.604A>G ENSP00000507805.1:p.Met202Val
ENST00000682987.1:n.747A>G
ENST00000683511.1:n.763A>G
ENST00000684107.1:c.604A>G ENSP00000507440.1:p.Met202Val
ENST00000684506.1:c.604A>G ENSP00000507728.1:p.Met202Val
ENST00000684517.1:c.604A>G ENSP00000507828.1:p.Met202Val
ENST00000684607.1:c.604A>G ENSP00000508224.1:p.Met202Val
ENST00000295956.9:c.604A>G MANE Select ENSP00000295956.5:p.Met202Val
ENST00000295956.8:c.604A>G ENSP00000295956.4:p.Met202Val
ENST00000358537.7:c.604A>G ENSP00000351339.3:p.Met202Val
ENST00000429972.6:c.604A>G ENSP00000415599.2:p.Met202Val
ENST00000490882.5:c.604A>G ENSP00000420213.1:p.Met202Val
ENST00000493452.5:c.97A>G ENSP00000418510.1:p.Met33Val
NM_001164317.1:c.604A>G NP_001157789.1:p.Met202Val
NM_001164318.1:c.604A>G NP_001157790.1:p.Met202Val
NM_001164319.1:c.604A>G NP_001157791.1:p.Met202Val
NM_001457.3:c.604A>G NP_001448.2:p.Met202Val
XM_005264977.1:c.604A>G XP_005265034.1:p.Met202Val
XM_005264978.1:c.604A>G XP_005265035.1:p.Met202Val
XM_005264981.1:c.604A>G XP_005265038.1:p.Met202Val
XR_940396.1:n.749A>G
XM_005264978.2:c.604A>G XP_005265035.1:p.Met202Val
XR_001740065.1:n.749A>G
XR_940396.2:n.749A>G
NM_001164317.2:c.604A>G NP_001157789.1:p.Met202Val
NM_001164318.2:c.604A>G NP_001157790.1:p.Met202Val
NM_001164319.2:c.604A>G NP_001157791.1:p.Met202Val
NM_001457.4:c.604A>G MANE Select NP_001448.2:p.Met202Val
Search 100 bp 5'
Search 100 bp 3'