Canonical Allele Identifier: CA543244628

Gene: FLNB

Linked Data

• ClinVar Variation Id: 2963345
• ClinVar RCV Id: RCV003822999
• dbSNP Id: rs1205120401
• gnomAD v2: 3-58095291-T-C
• gnomAD v4: 3-58109564-T-C
• MyVariant Identifiers: chr3:g.58095291T>C (hg19) ; chr3:g.58109564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58109564T>C , CM000665.2:g.58109564T>C	GRCh38
NC_000003.11:g.58095291T>C , CM000665.1:g.58095291T>C	GRCh37
NC_000003.10:g.58070331T>C	NCBI36
NG_012801.1:g.106165T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682868.1:n.2343-12T>C
ENST00000682871.1:c.2200-12T>C	ENSP00000507805.1:n.2200-12T>C
ENST00000684107.1:c.*732-12T>C	ENSP00000507440.1:n.*732-12T>C
ENST00000684506.1:c.*732-12T>C	ENSP00000507728.1:n.*732-12T>C
ENST00000684517.1:c.*732-12T>C	ENSP00000507828.1:n.*732-12T>C
ENST00000684607.1:c.2200-12T>C	ENSP00000508224.1:n.2200-12T>C
ENST00000295956.9:c.2200-12T>C MANE Select	ENSP00000295956.5:n.2200-12T>C
ENST00000295956.8:c.2200-12T>C	ENSP00000295956.4:n.2200-12T>C
ENST00000358537.7:c.2200-12T>C	ENSP00000351339.3:n.2200-12T>C
ENST00000429972.6:c.2200-12T>C	ENSP00000415599.2:n.2200-12T>C
ENST00000490882.5:c.2200-12T>C	ENSP00000420213.1:n.2200-12T>C
ENST00000493452.5:c.1693-12T>C	ENSP00000418510.1:n.1693-12T>C
NM_001164317.1:c.2200-12T>C	NP_001157789.1:n.2200-12T>C
NM_001164318.1:c.2200-12T>C	NP_001157790.1:n.2200-12T>C
NM_001164319.1:c.2200-12T>C	NP_001157791.1:n.2200-12T>C
NM_001457.3:c.2200-12T>C	NP_001448.2:n.2200-12T>C
XM_005264977.1:c.2200-12T>C	XP_005265034.1:n.2200-12T>C
XM_005264978.1:c.2200-12T>C	XP_005265035.1:n.2200-12T>C
XM_005264981.1:c.2200-12T>C	XP_005265038.1:n.2200-12T>C
XR_940396.1:n.2345-12T>C
XM_005264978.2:c.2200-12T>C	XP_005265035.1:n.2200-12T>C
XR_001740065.1:n.2345-12T>C
XR_940396.2:n.2345-12T>C
NM_001164317.2:c.2200-12T>C	NP_001157789.1:n.2200-12T>C
NM_001164318.2:c.2200-12T>C	NP_001157790.1:n.2200-12T>C
NM_001164319.2:c.2200-12T>C	NP_001157791.1:n.2200-12T>C
NM_001457.4:c.2200-12T>C MANE Select	NP_001448.2:n.2200-12T>C