Canonical Allele Identifier: CA415180314

Gene: FLNA

Linked Data

• ClinVar Variation Id: 512188
• ClinVar RCV Id: RCV001508976 ; RCV001855225
• dbSNP Id: rs1557175287
• gnomAD v4: X-154349473-C-A
• MyVariant Identifiers: chrX:g.153577841C>A (hg19) ; chrX:g.154349473C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349473C>A , CM000685.2:g.154349473C>A	GRCh38
NC_000023.10:g.153577841C>A , CM000685.1:g.153577841C>A	GRCh37
NC_000023.9:g.153231035C>A	NCBI36
NG_011506.1:g.30166G>T
NG_011506.2:g.30166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7621G>T	ENSP00000353467.4:p.Ala2541Ser
ENST00000369850.10:c.7645G>T MANE Select	ENSP00000358866.3:p.Ala2549Ser
ENST00000369856.8:c.7564G>T	ENSP00000358872.4:p.Ala2522Ser
ENST00000422373.6:c.4426G>T	ENSP00000416926.2:p.Ala1476Ser
ENST00000610817.5:c.7702G>T	ENSP00000480593.2:n.7702G>T
ENST00000673639.2:c.280-783G>T
ENST00000676696.1:c.7924G>T	ENSP00000503392.1:n.7924G>T
ENST00000678304.1:n.3363G>T
ENST00000344736.8:c.7525G>T	ENSP00000358863.3:p.Ala2509Ser
ENST00000360319.8:c.7621G>T	ENSP00000353467.4:p.Ala2541Ser
ENST00000369850.7:c.7645G>T	ENSP00000358866.3:p.Ala2549Ser
ENST00000369856.7:c.7564G>T	ENSP00000358872.4:p.Ala2522Ser
ENST00000420627.5:c.7601G>T	ENSP00000408921.1:n.7601G>T
ENST00000422373.5:c.7621G>T	ENSP00000416926.1:p.Ala2541Ser
ENST00000462590.1:n.800G>T
ENST00000490936.5:n.4874G>T
ENST00000498411.1:n.68-643G>T
ENST00000498491.5:n.686G>T
ENST00000610817.4:c.6649G>T	ENSP00000480593.1:p.Ala2217Ser
NM_001110556.1:c.7645G>T	NP_001104026.1:p.Ala2549Ser
NM_001456.3:c.7621G>T	NP_001447.2:p.Ala2541Ser
XM_011531127.1:c.7549G>T	XP_011529429.1:p.Ala2517Ser
XM_011531128.1:c.7525G>T	XP_011529430.1:p.Ala2509Ser
XM_011531129.1:c.7471G>T	XP_011529431.1:p.Ala2491Ser
XM_011531130.1:c.7447G>T	XP_011529432.1:p.Ala2483Ser
XM_011531131.1:c.7444G>T	XP_011529433.1:p.Ala2482Ser
NM_001110556.2:c.7645G>T MANE Select	NP_001104026.1:p.Ala2549Ser
NM_001456.4:c.7621G>T	NP_001447.2:p.Ala2541Ser