Canonical Allele Identifier: CA415184706

Gene: FLNA

Linked Data

• gnomAD v4: X-154350918-T-C
• MyVariant Identifiers: chrX:g.153579286T>C (hg19) ; chrX:g.154350918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350918T>C , CM000685.2:g.154350918T>C	GRCh38
NC_000023.10:g.153579286T>C , CM000685.1:g.153579286T>C	GRCh37
NC_000023.9:g.153232480T>C	NCBI36
NG_011506.1:g.28721A>G
NG_011506.2:g.28721A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360319.9:c.7123A>G	ENSP00000353467.4:p.Ile2375Val
ENST00000369850.10:c.7147A>G MANE Select	ENSP00000358866.3:p.Ile2383Val
ENST00000369856.8:c.7066A>G	ENSP00000358872.4:p.Ile2356Val
ENST00000422373.6:c.3928A>G	ENSP00000416926.2:p.Ile1310Val
ENST00000610817.5:c.7204A>G	ENSP00000480593.2:n.7204A>G
ENST00000673639.2:c.280-2228A>G
ENST00000676696.1:c.7426A>G	ENSP00000503392.1:n.7426A>G
ENST00000678304.1:n.2865A>G
ENST00000344736.8:c.7027A>G	ENSP00000358863.3:p.Ile2343Val
ENST00000360319.8:c.7123A>G	ENSP00000353467.4:p.Ile2375Val
ENST00000369850.7:c.7147A>G	ENSP00000358866.3:p.Ile2383Val
ENST00000369856.7:c.7066A>G	ENSP00000358872.4:p.Ile2356Val
ENST00000420627.5:c.7103A>G	ENSP00000408921.1:n.7103A>G
ENST00000422373.5:c.7123A>G	ENSP00000416926.1:p.Ile2375Val
ENST00000490936.5:n.3675A>G
ENST00000498411.1:n.67+1899A>G
ENST00000498491.5:n.188A>G
ENST00000610817.4:c.6151A>G	ENSP00000480593.1:p.Ile2051Val
NM_001110556.1:c.7147A>G	NP_001104026.1:p.Ile2383Val
NM_001456.3:c.7123A>G	NP_001447.2:p.Ile2375Val
XM_011531127.1:c.7051A>G	XP_011529429.1:p.Ile2351Val
XM_011531128.1:c.7027A>G	XP_011529430.1:p.Ile2343Val
XM_011531129.1:c.6973A>G	XP_011529431.1:p.Ile2325Val
XM_011531130.1:c.6949A>G	XP_011529432.1:p.Ile2317Val
XM_011531131.1:c.6946A>G	XP_011529433.1:p.Ile2316Val
NM_001110556.2:c.7147A>G MANE Select	NP_001104026.1:p.Ile2383Val
NM_001456.4:c.7123A>G	NP_001447.2:p.Ile2375Val