Canonical Allele Identifier: CA231114

Gene: FLNA

Linked Data

• ClinVar Variation Id: 129070
• ClinVar RCV Id: RCV000117053 ; RCV000200324 ; RCV001085804 ; RCV004019633 ; RCV004542840
• dbSNP Id: rs199911951
• ExAC: X:153590448 C / T
• gnomAD v2: X-153590448-C-T
• gnomAD v3: X-154362080-C-T
• gnomAD v4: X-154362080-C-T
• MyVariant Identifiers: chrX:g.153590448C>T (hg19) ; chrX:g.154362080C>T (hg38)
• PubMed: PMID:25649377

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362080C>T , CM000685.2:g.154362080C>T	GRCh38
NC_000023.10:g.153590448C>T , CM000685.1:g.153590448C>T	GRCh37
NC_000023.9:g.153243642C>T	NCBI36
NG_011506.1:g.17559G>A
NG_011506.2:g.17559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2725G>A	ENSP00000353467.4:p.Val909Ile
ENST00000369850.10:c.2725G>A MANE Select	ENSP00000358866.3:p.Val909Ile
ENST00000369856.8:c.2644G>A	ENSP00000358872.4:p.Val882Ile
ENST00000422373.6:c.2725G>A	ENSP00000416926.2:p.Val909Ile
ENST00000610817.5:c.2782G>A	ENSP00000480593.2:n.2782G>A
ENST00000673639.2:c.279+3356G>A
ENST00000676696.1:c.3004G>A	ENSP00000503392.1:n.3004G>A
ENST00000344736.8:c.2725G>A	ENSP00000358863.3:p.Val909Ile
ENST00000360319.8:c.2725G>A	ENSP00000353467.4:p.Val909Ile
ENST00000369850.7:c.2725G>A	ENSP00000358866.3:p.Val909Ile
ENST00000369856.7:c.2644G>A	ENSP00000358872.4:p.Val882Ile
ENST00000420627.5:c.2681G>A	ENSP00000408921.1:n.2681G>A
ENST00000422373.5:c.2725G>A	ENSP00000416926.1:p.Val909Ile
ENST00000610817.4:c.2644G>A	ENSP00000480593.1:p.Val882Ile
NM_001110556.1:c.2725G>A	NP_001104026.1:p.Val909Ile
NM_001456.3:c.2725G>A	NP_001447.2:p.Val909Ile
XM_011531127.1:c.2725G>A	XP_011529429.1:p.Val909Ile
XM_011531128.1:c.2725G>A	XP_011529430.1:p.Val909Ile
XM_011531129.1:c.2725G>A	XP_011529431.1:p.Val909Ile
XM_011531130.1:c.2725G>A	XP_011529432.1:p.Val909Ile
XM_011531131.1:c.2524G>A	XP_011529433.1:p.Val842Ile
NM_001110556.2:c.2725G>A MANE Select	NP_001104026.1:p.Val909Ile
NM_001456.4:c.2725G>A	NP_001447.2:p.Val909Ile