Canonical Allele Identifier: CA10561208

Gene: FLNA

Linked Data

• ClinVar Variation Id: 502656
• ClinVar RCV Id: RCV000594598 ; RCV000863539 ; RCV003437298 ; RCV004024862
• dbSNP Id: rs782320818
• ExAC: X:153594511 C / T
• gnomAD v2: X-153594511-C-T
• gnomAD v3: X-154366143-C-T
• gnomAD v4: X-154366143-C-T
• COSMIC: COSM1466802 ; COSM1466803
• MyVariant Identifiers: chrX:g.153594511C>T (hg19) ; chrX:g.154366143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154366143C>T , CM000685.2:g.154366143C>T	GRCh38
NC_000023.10:g.153594511C>T , CM000685.1:g.153594511C>T	GRCh37
NC_000023.9:g.153247705C>T	NCBI36
NG_011506.1:g.13496G>A
NG_011506.2:g.13496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.1310G>A	ENSP00000353467.4:p.Arg437Gln
ENST00000369850.10:c.1310G>A MANE Select	ENSP00000358866.3:p.Arg437Gln
ENST00000369856.8:c.1229G>A	ENSP00000358872.4:p.Arg410Gln
ENST00000422373.6:c.1310G>A	ENSP00000416926.2:p.Arg437Gln
ENST00000610817.5:c.1310G>A	ENSP00000480593.2:p.Arg437Gln
ENST00000673639.2:c.109G>A
ENST00000676696.1:c.1310G>A	ENSP00000503392.1:p.Arg437Gln
ENST00000344736.8:c.1310G>A	ENSP00000358863.3:p.Arg437Gln
ENST00000360319.8:c.1310G>A	ENSP00000353467.4:p.Arg437Gln
ENST00000369850.7:c.1310G>A	ENSP00000358866.3:p.Arg437Gln
ENST00000369856.7:c.1229G>A	ENSP00000358872.4:p.Arg410Gln
ENST00000420627.5:c.1268G>A	ENSP00000408921.1:p.Arg423Gln
ENST00000422373.5:c.1310G>A	ENSP00000416926.1:p.Arg437Gln
ENST00000610817.4:c.1229G>A	ENSP00000480593.1:p.Arg410Gln
NM_001110556.1:c.1310G>A	NP_001104026.1:p.Arg437Gln
NM_001456.3:c.1310G>A	NP_001447.2:p.Arg437Gln
XM_011531127.1:c.1310G>A	XP_011529429.1:p.Arg437Gln
XM_011531128.1:c.1310G>A	XP_011529430.1:p.Arg437Gln
XM_011531129.1:c.1310G>A	XP_011529431.1:p.Arg437Gln
XM_011531130.1:c.1310G>A	XP_011529432.1:p.Arg437Gln
XM_011531131.1:c.1228+165G>A	XP_011529433.1:n.1228+165G>A
NM_001110556.2:c.1310G>A MANE Select	NP_001104026.1:p.Arg437Gln
NM_001456.4:c.1310G>A	NP_001447.2:p.Arg437Gln