Canonical Allele Identifier: CA415194302

Gene: FLNA

Linked Data

• ClinVar Variation Id: 570169
• ClinVar RCV Id: RCV002233217
• dbSNP Id: rs1569551477
• MyVariant Identifiers: chrX:g.153581250A>G (hg19) ; chrX:g.154352882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352882A>G , CM000685.2:g.154352882A>G	GRCh38
NC_000023.10:g.153581250A>G , CM000685.1:g.153581250A>G	GRCh37
NC_000023.9:g.153234444A>G	NCBI36
NG_011506.1:g.26757T>C
NG_011506.2:g.26757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6245T>C	ENSP00000353467.4:p.Val2082Ala
ENST00000369850.10:c.6269T>C MANE Select	ENSP00000358866.3:p.Val2090Ala
ENST00000369856.8:c.6188T>C	ENSP00000358872.4:p.Val2063Ala
ENST00000422373.6:c.3161-207T>C	ENSP00000416926.2:n.3161-207T>C
ENST00000610817.5:c.6326T>C	ENSP00000480593.2:n.6326T>C
ENST00000673639.2:c.280-4192T>C
ENST00000676696.1:c.6548T>C	ENSP00000503392.1:n.6548T>C
ENST00000678304.1:n.1448T>C
ENST00000344736.8:c.6149T>C	ENSP00000358863.3:p.Val2050Ala
ENST00000360319.8:c.6245T>C	ENSP00000353467.4:p.Val2082Ala
ENST00000369850.7:c.6269T>C	ENSP00000358866.3:p.Val2090Ala
ENST00000369856.7:c.6188T>C	ENSP00000358872.4:p.Val2063Ala
ENST00000415241.1:c.471T>C
ENST00000420627.5:c.6225T>C	ENSP00000408921.1:n.6225T>C
ENST00000422373.5:c.6245T>C	ENSP00000416926.1:p.Val2082Ala
ENST00000444578.1:c.212T>C	ENSP00000397824.1:p.Val71Ala
ENST00000466325.1:n.484T>C
ENST00000490936.5:n.2258T>C
ENST00000498411.1:n.2T>C
ENST00000610817.4:c.5844+511T>C	ENSP00000480593.1:n.5844+511T>C
NM_001110556.1:c.6269T>C	NP_001104026.1:p.Val2090Ala
NM_001456.3:c.6245T>C	NP_001447.2:p.Val2082Ala
XM_011531127.1:c.6173T>C	XP_011529429.1:p.Val2058Ala
XM_011531128.1:c.6149T>C	XP_011529430.1:p.Val2050Ala
XM_011531129.1:c.6095T>C	XP_011529431.1:p.Val2032Ala
XM_011531130.1:c.6071T>C	XP_011529432.1:p.Val2024Ala
XM_011531131.1:c.6068T>C	XP_011529433.1:p.Val2023Ala
NM_001110556.2:c.6269T>C MANE Select	NP_001104026.1:p.Val2090Ala
NM_001456.4:c.6245T>C	NP_001447.2:p.Val2082Ala