Canonical Allele Identifier: CA10560569

Gene: FLNA

Linked Data

• ClinVar Variation Id: 435207
• ClinVar RCV Id: RCV000504106 ; RCV000838677 ; RCV000985096 ; RCV001085359 ; RCV002314867
• dbSNP Id: rs782426283
• ExAC: X:153587685 G / A
• gnomAD v2: X-153587685-G-A
• gnomAD v3: X-154359317-G-A
• gnomAD v4: X-154359317-G-A
• MyVariant Identifiers: chrX:g.153587685G>A (hg19) ; chrX:g.154359317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154359317G>A , CM000685.2:g.154359317G>A	GRCh38
NC_000023.10:g.153587685G>A , CM000685.1:g.153587685G>A	GRCh37
NC_000023.9:g.153240879G>A	NCBI36
NG_011506.1:g.20322C>T
NG_011506.2:g.20322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4232C>T	ENSP00000353467.4:p.Ser1411Leu
ENST00000369850.10:c.4232C>T MANE Select	ENSP00000358866.3:p.Ser1411Leu
ENST00000369856.8:c.4151C>T	ENSP00000358872.4:p.Ser1384Leu
ENST00000422373.6:c.3160+2038C>T	ENSP00000416926.2:n.3160+2038C>T
ENST00000610817.5:c.4289C>T	ENSP00000480593.2:n.4289C>T
ENST00000673639.2:c.279+6119C>T
ENST00000676696.1:c.4511C>T	ENSP00000503392.1:n.4511C>T
ENST00000678304.1:n.11C>T
ENST00000344736.8:c.4232C>T	ENSP00000358863.3:p.Ser1411Leu
ENST00000360319.8:c.4232C>T	ENSP00000353467.4:p.Ser1411Leu
ENST00000369850.7:c.4232C>T	ENSP00000358866.3:p.Ser1411Leu
ENST00000369856.7:c.4151C>T	ENSP00000358872.4:p.Ser1384Leu
ENST00000420627.5:c.4188C>T	ENSP00000408921.1:n.4188C>T
ENST00000422373.5:c.4232C>T	ENSP00000416926.1:p.Ser1411Leu
ENST00000490936.5:n.245C>T
ENST00000610817.4:c.4151C>T	ENSP00000480593.1:p.Ser1384Leu
NM_001110556.1:c.4232C>T	NP_001104026.1:p.Ser1411Leu
NM_001456.3:c.4232C>T	NP_001447.2:p.Ser1411Leu
XM_011531127.1:c.4232C>T	XP_011529429.1:p.Ser1411Leu
XM_011531128.1:c.4232C>T	XP_011529430.1:p.Ser1411Leu
XM_011531129.1:c.4232C>T	XP_011529431.1:p.Ser1411Leu
XM_011531130.1:c.4232C>T	XP_011529432.1:p.Ser1411Leu
XM_011531131.1:c.4031C>T	XP_011529433.1:p.Ser1344Leu
NM_001110556.2:c.4232C>T MANE Select	NP_001104026.1:p.Ser1411Leu
NM_001456.4:c.4232C>T	NP_001447.2:p.Ser1411Leu