Canonical Allele Identifier: CA519276507
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 2626168
ClinVar RCV Id: RCV003382148
MyVariant Identifiers: chrX:g.153579296A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154350928A>G , CM000685.2:g.154350928A>G GRCh38
NC_000023.10:g.153579296A>G , CM000685.1:g.153579296A>G GRCh37
NC_000023.9:g.153232490A>G NCBI36
NG_011506.1:g.28711T>C
NG_011506.2:g.28711T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.7113T>C ENSP00000353467.4:p.Tyr2371=
ENST00000369850.10:c.7137T>C MANE Select ENSP00000358866.3:p.Tyr2379=
ENST00000369856.8:c.7056T>C ENSP00000358872.4:p.Tyr2352=
ENST00000422373.6:c.3918T>C ENSP00000416926.2:p.Tyr1306=
ENST00000610817.5:c.7194T>C ENSP00000480593.2:n.7194T>C
ENST00000673639.2:c.280-2238T>C
ENST00000676696.1:c.7416T>C ENSP00000503392.1:n.7416T>C
ENST00000678304.1:n.2855T>C
ENST00000344736.8:c.7017T>C ENSP00000358863.3:p.Tyr2339=
ENST00000360319.8:c.7113T>C ENSP00000353467.4:p.Tyr2371=
ENST00000369850.7:c.7137T>C ENSP00000358866.3:p.Tyr2379=
ENST00000369856.7:c.7056T>C ENSP00000358872.4:p.Tyr2352=
ENST00000420627.5:c.7093T>C ENSP00000408921.1:n.7093T>C
ENST00000422373.5:c.7113T>C ENSP00000416926.1:p.Tyr2371=
ENST00000490936.5:n.3665T>C
ENST00000498411.1:n.67+1889T>C
ENST00000498491.5:n.178T>C
ENST00000610817.4:c.6141T>C ENSP00000480593.1:p.Tyr2047=
NM_001110556.1:c.7137T>C NP_001104026.1:p.Tyr2379=
NM_001456.3:c.7113T>C NP_001447.2:p.Tyr2371=
XM_011531127.1:c.7041T>C XP_011529429.1:p.Tyr2347=
XM_011531128.1:c.7017T>C XP_011529430.1:p.Tyr2339=
XM_011531129.1:c.6963T>C XP_011529431.1:p.Tyr2321=
XM_011531130.1:c.6939T>C XP_011529432.1:p.Tyr2313=
XM_011531131.1:c.6936T>C XP_011529433.1:p.Tyr2312=
NM_001110556.2:c.7137T>C MANE Select NP_001104026.1:p.Tyr2379=
NM_001456.4:c.7113T>C NP_001447.2:p.Tyr2371=