Canonical Allele Identifier: CA2468872

Gene: FLNB

Linked Data

• ClinVar Variation Id: 899585
• ClinVar RCV Id: RCV001144243 ; RCV002482274
• dbSNP Id: rs761698437
• ExAC: 3:58121860 C / T
• gnomAD v2: 3-58121860-C-T
• gnomAD v3: 3-58136133-C-T
• gnomAD v4: 3-58136133-C-T
• MyVariant Identifiers: chr3:g.58121860C>T (hg19) ; chr3:g.58136133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58136133C>T , CM000665.2:g.58136133C>T	GRCh38
NC_000003.11:g.58121860C>T , CM000665.1:g.58121860C>T	GRCh37
NC_000003.10:g.58096900C>T	NCBI36
NG_012801.1:g.132734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682297.1:n.250C>T
ENST00000682868.1:n.6868C>T
ENST00000682871.1:c.4919C>T	ENSP00000507805.1:p.Thr1640Ile
ENST00000684506.1:c.*3451C>T	ENSP00000507728.1:n.*3451C>T
ENST00000684607.1:c.4919C>T	ENSP00000508224.1:p.Thr1640Ile
ENST00000295956.9:c.4826C>T MANE Select	ENSP00000295956.5:p.Thr1609Ile
ENST00000295956.8:c.4826C>T	ENSP00000295956.4:p.Thr1609Ile
ENST00000358537.7:c.4826C>T	ENSP00000351339.3:p.Thr1609Ile
ENST00000429972.6:c.4826C>T	ENSP00000415599.2:p.Thr1609Ile
ENST00000481470.5:n.1166C>T
ENST00000490882.5:c.4919C>T	ENSP00000420213.1:p.Thr1640Ile
ENST00000493452.5:c.4319C>T	ENSP00000418510.1:p.Thr1440Ile
NM_001164317.1:c.4919C>T	NP_001157789.1:p.Thr1640Ile
NM_001164318.1:c.4826C>T	NP_001157790.1:p.Thr1609Ile
NM_001164319.1:c.4826C>T	NP_001157791.1:p.Thr1609Ile
NM_001457.3:c.4826C>T	NP_001448.2:p.Thr1609Ile
XM_005264977.1:c.4919C>T	XP_005265034.1:p.Thr1640Ile
XM_005264978.1:c.4919C>T	XP_005265035.1:p.Thr1640Ile
XM_005264981.1:c.4919C>T	XP_005265038.1:p.Thr1640Ile
XR_940396.1:n.5064C>T
XM_005264978.2:c.4919C>T	XP_005265035.1:p.Thr1640Ile
XR_001740065.1:n.5064C>T
XR_940396.2:n.5064C>T
NM_001164317.2:c.4919C>T	NP_001157789.1:p.Thr1640Ile
NM_001164318.2:c.4826C>T	NP_001157790.1:p.Thr1609Ile
NM_001164319.2:c.4826C>T	NP_001157791.1:p.Thr1609Ile
NM_001457.4:c.4826C>T MANE Select	NP_001448.2:p.Thr1609Ile