Canonical Allele Identifier: CA353352130
Gene: FLNB HGNC NCBI

Linked Data

dbSNP Id: rs1371800279
gnomAD v2: 3-58121804-T-G
gnomAD v4: 3-58136077-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136077T>G , CM000665.2:g.58136077T>G GRCh38
NC_000003.11:g.58121804T>G , CM000665.1:g.58121804T>G GRCh37
NC_000003.10:g.58096844T>G NCBI36
NG_012801.1:g.132678T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.194T>G
ENST00000682868.1:n.6812T>G
ENST00000682871.1:c.4863T>G ENSP00000507805.1:p.Ile1621Met
ENST00000684506.1:c.*3395T>G ENSP00000507728.1:n.*3395T>G
ENST00000684607.1:c.4863T>G ENSP00000508224.1:p.Ile1621Met
ENST00000295956.9:c.4770T>G MANE Select ENSP00000295956.5:p.Ile1590Met
ENST00000295956.8:c.4770T>G ENSP00000295956.4:p.Ile1590Met
ENST00000358537.7:c.4770T>G ENSP00000351339.3:p.Ile1590Met
ENST00000429972.6:c.4770T>G ENSP00000415599.2:p.Ile1590Met
ENST00000481470.5:n.1110T>G
ENST00000490882.5:c.4863T>G ENSP00000420213.1:p.Ile1621Met
ENST00000493452.5:c.4263T>G ENSP00000418510.1:p.Ile1421Met
NM_001164317.1:c.4863T>G NP_001157789.1:p.Ile1621Met
NM_001164318.1:c.4770T>G NP_001157790.1:p.Ile1590Met
NM_001164319.1:c.4770T>G NP_001157791.1:p.Ile1590Met
NM_001457.3:c.4770T>G NP_001448.2:p.Ile1590Met
XM_005264977.1:c.4863T>G XP_005265034.1:p.Ile1621Met
XM_005264978.1:c.4863T>G XP_005265035.1:p.Ile1621Met
XM_005264981.1:c.4863T>G XP_005265038.1:p.Ile1621Met
XR_940396.1:n.5008T>G
XM_005264978.2:c.4863T>G XP_005265035.1:p.Ile1621Met
XR_001740065.1:n.5008T>G
XR_940396.2:n.5008T>G
NM_001164317.2:c.4863T>G NP_001157789.1:p.Ile1621Met
NM_001164318.2:c.4770T>G NP_001157790.1:p.Ile1590Met
NM_001164319.2:c.4770T>G NP_001157791.1:p.Ile1590Met
NM_001457.4:c.4770T>G MANE Select NP_001448.2:p.Ile1590Met