Canonical Allele Identifier: CA16616627

Gene: FLNA

Linked Data

• ClinVar Variation Id: 405446
• ClinVar RCV Id: RCV001387919
• dbSNP Id: rs1060500717
• COSMIC: COSM5367324 ; COSM5367325
• MyVariant Identifiers: chrX:g.153580594G>A (hg19) ; chrX:g.154352226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352226G>A , CM000685.2:g.154352226G>A	GRCh38
NC_000023.10:g.153580594G>A , CM000685.1:g.153580594G>A	GRCh37
NC_000023.9:g.153233788G>A	NCBI36
NG_011506.1:g.27413C>T
NG_011506.2:g.27413C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360319.9:c.6700C>T	ENSP00000353467.4:p.Arg2234Ter
ENST00000369850.10:c.6724C>T MANE Select	ENSP00000358866.3:p.Arg2242Ter
ENST00000369856.8:c.6643C>T	ENSP00000358872.4:p.Arg2215Ter
ENST00000422373.6:c.3505C>T	ENSP00000416926.2:p.Arg1169Ter
ENST00000610817.5:c.6781C>T	ENSP00000480593.2:n.6781C>T
ENST00000673639.2:c.280-3536C>T
ENST00000676696.1:c.7003C>T	ENSP00000503392.1:n.7003C>T
ENST00000678304.1:n.1903C>T
ENST00000344736.8:c.6604C>T	ENSP00000358863.3:p.Arg2202Ter
ENST00000360319.8:c.6700C>T	ENSP00000353467.4:p.Arg2234Ter
ENST00000369850.7:c.6724C>T	ENSP00000358866.3:p.Arg2242Ter
ENST00000369856.7:c.6643C>T	ENSP00000358872.4:p.Arg2215Ter
ENST00000420627.5:c.6680C>T	ENSP00000408921.1:n.6680C>T
ENST00000422373.5:c.6700C>T	ENSP00000416926.1:p.Arg2234Ter
ENST00000444578.1:c.544C>T	ENSP00000397824.1:p.Arg182Ter
ENST00000474358.5:n.357C>T
ENST00000490936.5:n.2713C>T
ENST00000498411.1:n.67+591C>T
ENST00000610817.4:c.5845-276C>T	ENSP00000480593.1:n.5845-276C>T
NM_001110556.1:c.6724C>T	NP_001104026.1:p.Arg2242Ter
NM_001456.3:c.6700C>T	NP_001447.2:p.Arg2234Ter
XM_011531127.1:c.6628C>T	XP_011529429.1:p.Arg2210Ter
XM_011531128.1:c.6604C>T	XP_011529430.1:p.Arg2202Ter
XM_011531129.1:c.6550C>T	XP_011529431.1:p.Arg2184Ter
XM_011531130.1:c.6526C>T	XP_011529432.1:p.Arg2176Ter
XM_011531131.1:c.6523C>T	XP_011529433.1:p.Arg2175Ter
NM_001110556.2:c.6724C>T MANE Select	NP_001104026.1:p.Arg2242Ter
NM_001456.4:c.6700C>T	NP_001447.2:p.Arg2234Ter