Canonical Allele Identifier: CA353333917

Gene: FLNB

Linked Data

• ClinVar Variation Id: 1452279
• ClinVar RCV Id: RCV001999729
• dbSNP Id: rs2106952084
• MyVariant Identifiers: chr3:g.58064515G>T (hg19) ; chr3:g.58078788G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58078788G>T , CM000665.2:g.58078788G>T	GRCh38
NC_000003.11:g.58064515G>T , CM000665.1:g.58064515G>T	GRCh37
NC_000003.10:g.58039555G>T	NCBI36
NG_012801.1:g.75389G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682097.1:c.613G>T	ENSP00000508183.1:p.Ala205Ser
ENST00000682868.1:n.756G>T
ENST00000682871.1:c.613G>T	ENSP00000507805.1:p.Ala205Ser
ENST00000682987.1:n.756G>T
ENST00000683511.1:n.772G>T
ENST00000684107.1:c.613G>T	ENSP00000507440.1:p.Ala205Ser
ENST00000684506.1:c.613G>T	ENSP00000507728.1:p.Ala205Ser
ENST00000684517.1:c.613G>T	ENSP00000507828.1:p.Ala205Ser
ENST00000684607.1:c.613G>T	ENSP00000508224.1:p.Ala205Ser
ENST00000295956.9:c.613G>T MANE Select	ENSP00000295956.5:p.Ala205Ser
ENST00000295956.8:c.613G>T	ENSP00000295956.4:p.Ala205Ser
ENST00000358537.7:c.613G>T	ENSP00000351339.3:p.Ala205Ser
ENST00000429972.6:c.613G>T	ENSP00000415599.2:p.Ala205Ser
ENST00000490882.5:c.613G>T	ENSP00000420213.1:p.Ala205Ser
ENST00000493452.5:c.106G>T	ENSP00000418510.1:p.Ala36Ser
NM_001164317.1:c.613G>T	NP_001157789.1:p.Ala205Ser
NM_001164318.1:c.613G>T	NP_001157790.1:p.Ala205Ser
NM_001164319.1:c.613G>T	NP_001157791.1:p.Ala205Ser
NM_001457.3:c.613G>T	NP_001448.2:p.Ala205Ser
XM_005264977.1:c.613G>T	XP_005265034.1:p.Ala205Ser
XM_005264978.1:c.613G>T	XP_005265035.1:p.Ala205Ser
XM_005264981.1:c.613G>T	XP_005265038.1:p.Ala205Ser
XR_940396.1:n.758G>T
XM_005264978.2:c.613G>T	XP_005265035.1:p.Ala205Ser
XR_001740065.1:n.758G>T
XR_940396.2:n.758G>T
NM_001164317.2:c.613G>T	NP_001157789.1:p.Ala205Ser
NM_001164318.2:c.613G>T	NP_001157790.1:p.Ala205Ser
NM_001164319.2:c.613G>T	NP_001157791.1:p.Ala205Ser
NM_001457.4:c.613G>T MANE Select	NP_001448.2:p.Ala205Ser