Canonical Allele Identifier: CA130019
Gene: FLNB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.58138491G>A
GRCh37 chr3:g.58124218G>A
Revel Score:
ENST00000295956 (MANE Select) 0.704
ENST00000490882 0.704
ENST00000358537 0.704
ENST00000429972 0.704
ENST00000348383 0.704
ENST00000357272 0.704
ENST00000493452 0.704
ENST00000419752 0.704
ClinVar RCV:
RCV000030663
RCV001064985
ClinVar Variation:
6406
dbSNP:
80356503
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58138491G>A , CM000665.2:g.58138491G>A GRCh38
NC_000003.11:g.58124218G>A , CM000665.1:g.58124218G>A GRCh37
NC_000003.10:g.58099258G>A NCBI36
NG_012801.1:g.135092G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.495G>A
ENST00000682868.1:n.7113G>A
ENST00000682871.1:c.5164G>A ENSP00000507805.1:p.Gly1722Ser
ENST00000684506.1:c.*3696G>A ENSP00000507728.1:n.*3696G>A
ENST00000684607.1:c.5164G>A ENSP00000508224.1:p.Gly1722Ser
ENST00000295956.9:c.5071G>A MANE Select ENSP00000295956.5:p.Gly1691Ser
ENST00000295956.8:c.5071G>A ENSP00000295956.4:p.Gly1691Ser
ENST00000358537.7:c.5071G>A ENSP00000351339.3:p.Gly1691Ser
ENST00000429972.6:c.5071G>A ENSP00000415599.2:p.Gly1691Ser
ENST00000481470.5:n.1411G>A
ENST00000490882.5:c.5164G>A ENSP00000420213.1:p.Gly1722Ser
ENST00000493452.5:c.4564G>A ENSP00000418510.1:p.Gly1522Ser
NM_001164317.1:c.5164G>A NP_001157789.1:p.Gly1722Ser
NM_001164318.1:c.5071G>A NP_001157790.1:p.Gly1691Ser
NM_001164319.1:c.5071G>A NP_001157791.1:p.Gly1691Ser
NM_001457.3:c.5071G>A NP_001448.2:p.Gly1691Ser
XM_005264977.1:c.5164G>A XP_005265034.1:p.Gly1722Ser
XM_005264978.1:c.5164G>A XP_005265035.1:p.Gly1722Ser
XM_005264981.1:c.5164G>A XP_005265038.1:p.Gly1722Ser
XR_940396.1:n.5309G>A
XM_005264978.2:c.5164G>A XP_005265035.1:p.Gly1722Ser
XR_001740065.1:n.5309G>A
XR_940396.2:n.5309G>A
NM_001164317.2:c.5164G>A NP_001157789.1:p.Gly1722Ser
NM_001164318.2:c.5071G>A NP_001157790.1:p.Gly1691Ser
NM_001164319.2:c.5071G>A NP_001157791.1:p.Gly1691Ser
NM_001457.4:c.5071G>A MANE Select NP_001448.2:p.Gly1691Ser
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