Canonical Allele Identifier: CA16616646

Gene: FLNA

Linked Data

• ClinVar Variation Id: 405448
• ClinVar RCV Id: RCV001379313
• dbSNP Id: rs112363874
• MyVariant Identifiers: chrX:g.153580817T>G (hg19) ; chrX:g.154352449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352449T>G , CM000685.2:g.154352449T>G	GRCh38
NC_000023.10:g.153580817T>G , CM000685.1:g.153580817T>G	GRCh37
NC_000023.9:g.153234011T>G	NCBI36
NG_011506.1:g.27190A>C
NG_011506.2:g.27190A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6479-2A>C	ENSP00000353467.4:n.6479-2A>C
ENST00000369850.10:c.6503-2A>C MANE Select	ENSP00000358866.3:n.6503-2A>C
ENST00000369856.8:c.6422-2A>C	ENSP00000358872.4:n.6422-2A>C
ENST00000422373.6:c.3284-2A>C	ENSP00000416926.2:n.3284-2A>C
ENST00000610817.5:c.6560-2A>C	ENSP00000480593.2:n.6560-2A>C
ENST00000673639.2:c.280-3759A>C
ENST00000676696.1:c.6782-2A>C	ENSP00000503392.1:n.6782-2A>C
ENST00000678304.1:n.1682-2A>C
ENST00000344736.8:c.6383-2A>C	ENSP00000358863.3:n.6383-2A>C
ENST00000360319.8:c.6479-2A>C	ENSP00000353467.4:n.6479-2A>C
ENST00000369850.7:c.6503-2A>C	ENSP00000358866.3:n.6503-2A>C
ENST00000369856.7:c.6422-2A>C	ENSP00000358872.4:n.6422-2A>C
ENST00000420627.5:c.6459-2A>C	ENSP00000408921.1:n.6459-2A>C
ENST00000422373.5:c.6479-2A>C	ENSP00000416926.1:n.6479-2A>C
ENST00000444578.1:c.323-2A>C	ENSP00000397824.1:n.323-2A>C
ENST00000474358.5:n.136-2A>C
ENST00000490936.5:n.2492-2A>C
ENST00000498411.1:n.67+368A>C
ENST00000610817.4:c.5845-499A>C	ENSP00000480593.1:n.5845-499A>C
NM_001110556.1:c.6503-2A>C	NP_001104026.1:n.6503-2A>C
NM_001456.3:c.6479-2A>C	NP_001447.2:n.6479-2A>C
XM_011531127.1:c.6407-2A>C	XP_011529429.1:n.6407-2A>C
XM_011531128.1:c.6383-2A>C	XP_011529430.1:n.6383-2A>C
XM_011531129.1:c.6329-2A>C	XP_011529431.1:n.6329-2A>C
XM_011531130.1:c.6305-2A>C	XP_011529432.1:n.6305-2A>C
XM_011531131.1:c.6302-2A>C	XP_011529433.1:n.6302-2A>C
NM_001110556.2:c.6503-2A>C MANE Select	NP_001104026.1:n.6503-2A>C
NM_001456.4:c.6479-2A>C	NP_001447.2:n.6479-2A>C