Canonical Allele Identifier: CA353352120
Gene: FLNB HGNC NCBI

Linked Data

gnomAD v4: 3-58136073-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136073T>G , CM000665.2:g.58136073T>G GRCh38
NC_000003.11:g.58121800T>G , CM000665.1:g.58121800T>G GRCh37
NC_000003.10:g.58096840T>G NCBI36
NG_012801.1:g.132674T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.190T>G
ENST00000682868.1:n.6808T>G
ENST00000682871.1:c.4859T>G ENSP00000507805.1:p.Met1620Arg
ENST00000684506.1:c.*3391T>G ENSP00000507728.1:n.*3391T>G
ENST00000684607.1:c.4859T>G ENSP00000508224.1:p.Met1620Arg
ENST00000295956.9:c.4766T>G MANE Select ENSP00000295956.5:p.Met1589Arg
ENST00000295956.8:c.4766T>G ENSP00000295956.4:p.Met1589Arg
ENST00000358537.7:c.4766T>G ENSP00000351339.3:p.Met1589Arg
ENST00000429972.6:c.4766T>G ENSP00000415599.2:p.Met1589Arg
ENST00000481470.5:n.1106T>G
ENST00000490882.5:c.4859T>G ENSP00000420213.1:p.Met1620Arg
ENST00000493452.5:c.4259T>G ENSP00000418510.1:p.Met1420Arg
NM_001164317.1:c.4859T>G NP_001157789.1:p.Met1620Arg
NM_001164318.1:c.4766T>G NP_001157790.1:p.Met1589Arg
NM_001164319.1:c.4766T>G NP_001157791.1:p.Met1589Arg
NM_001457.3:c.4766T>G NP_001448.2:p.Met1589Arg
XM_005264977.1:c.4859T>G XP_005265034.1:p.Met1620Arg
XM_005264978.1:c.4859T>G XP_005265035.1:p.Met1620Arg
XM_005264981.1:c.4859T>G XP_005265038.1:p.Met1620Arg
XR_940396.1:n.5004T>G
XM_005264978.2:c.4859T>G XP_005265035.1:p.Met1620Arg
XR_001740065.1:n.5004T>G
XR_940396.2:n.5004T>G
NM_001164317.2:c.4859T>G NP_001157789.1:p.Met1620Arg
NM_001164318.2:c.4766T>G NP_001157790.1:p.Met1589Arg
NM_001164319.2:c.4766T>G NP_001157791.1:p.Met1589Arg
NM_001457.4:c.4766T>G MANE Select NP_001448.2:p.Met1589Arg