Canonical Allele Identifier: CA353352150

Gene: FLNB

Linked Data

• ClinVar Variation Id: 2734542
• ClinVar RCV Id: RCV003555090
• MyVariant Identifiers: chr3:g.58121815A>C (hg19) ; chr3:g.58136088A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58136088A>C , CM000665.2:g.58136088A>C	GRCh38
NC_000003.11:g.58121815A>C , CM000665.1:g.58121815A>C	GRCh37
NC_000003.10:g.58096855A>C	NCBI36
NG_012801.1:g.132689A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682297.1:n.205A>C
ENST00000682868.1:n.6823A>C
ENST00000682871.1:c.4874A>C	ENSP00000507805.1:p.Tyr1625Ser
ENST00000684506.1:c.*3406A>C	ENSP00000507728.1:n.*3406A>C
ENST00000684607.1:c.4874A>C	ENSP00000508224.1:p.Tyr1625Ser
ENST00000295956.9:c.4781A>C MANE Select	ENSP00000295956.5:p.Tyr1594Ser
ENST00000295956.8:c.4781A>C	ENSP00000295956.4:p.Tyr1594Ser
ENST00000358537.7:c.4781A>C	ENSP00000351339.3:p.Tyr1594Ser
ENST00000429972.6:c.4781A>C	ENSP00000415599.2:p.Tyr1594Ser
ENST00000481470.5:n.1121A>C
ENST00000490882.5:c.4874A>C	ENSP00000420213.1:p.Tyr1625Ser
ENST00000493452.5:c.4274A>C	ENSP00000418510.1:p.Tyr1425Ser
NM_001164317.1:c.4874A>C	NP_001157789.1:p.Tyr1625Ser
NM_001164318.1:c.4781A>C	NP_001157790.1:p.Tyr1594Ser
NM_001164319.1:c.4781A>C	NP_001157791.1:p.Tyr1594Ser
NM_001457.3:c.4781A>C	NP_001448.2:p.Tyr1594Ser
XM_005264977.1:c.4874A>C	XP_005265034.1:p.Tyr1625Ser
XM_005264978.1:c.4874A>C	XP_005265035.1:p.Tyr1625Ser
XM_005264981.1:c.4874A>C	XP_005265038.1:p.Tyr1625Ser
XR_940396.1:n.5019A>C
XM_005264978.2:c.4874A>C	XP_005265035.1:p.Tyr1625Ser
XR_001740065.1:n.5019A>C
XR_940396.2:n.5019A>C
NM_001164317.2:c.4874A>C	NP_001157789.1:p.Tyr1625Ser
NM_001164318.2:c.4781A>C	NP_001157790.1:p.Tyr1594Ser
NM_001164319.2:c.4781A>C	NP_001157791.1:p.Tyr1594Ser
NM_001457.4:c.4781A>C MANE Select	NP_001448.2:p.Tyr1594Ser