Canonical Allele Identifier: CA302718

Gene: FLNA

Linked Data

• ClinVar Variation Id: 193845
• ClinVar RCV Id: RCV000174052 ; RCV000490438 ; RCV000755539 ; RCV001079269 ; RCV004020064
• dbSNP Id: rs143873938
• ExAC: X:153593613 C / T
• gnomAD v2: X-153593613-C-T
• gnomAD v3: X-154365245-C-T
• gnomAD v4: X-154365245-C-T
• COSMIC: COSM3844086 ; COSM3844087
• MyVariant Identifiers: chrX:g.153593613C>T (hg19) ; chrX:g.154365245C>T (hg38)
• PubMed: PMID:20844545

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154365245C>T , CM000685.2:g.154365245C>T	GRCh38
NC_000023.10:g.153593613C>T , CM000685.1:g.153593613C>T	GRCh37
NC_000023.9:g.153246807C>T	NCBI36
NG_011506.1:g.14394G>A
NG_011506.2:g.14394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.1582G>A	ENSP00000353467.4:p.Val528Met
ENST00000369850.10:c.1582G>A MANE Select	ENSP00000358866.3:p.Val528Met
ENST00000369856.8:c.1501G>A	ENSP00000358872.4:p.Val501Met
ENST00000422373.6:c.1582G>A	ENSP00000416926.2:p.Val528Met
ENST00000610817.5:c.1639G>A	ENSP00000480593.2:n.1639G>A
ENST00000673639.2:c.279+191G>A
ENST00000676696.1:c.1861G>A	ENSP00000503392.1:n.1861G>A
ENST00000344736.8:c.1582G>A	ENSP00000358863.3:p.Val528Met
ENST00000360319.8:c.1582G>A	ENSP00000353467.4:p.Val528Met
ENST00000369850.7:c.1582G>A	ENSP00000358866.3:p.Val528Met
ENST00000369856.7:c.1501G>A	ENSP00000358872.4:p.Val501Met
ENST00000420627.5:c.1538G>A	ENSP00000408921.1:p.Arg513His
ENST00000422373.5:c.1582G>A	ENSP00000416926.1:p.Val528Met
ENST00000610817.4:c.1501G>A	ENSP00000480593.1:p.Val501Met
NM_001110556.1:c.1582G>A	NP_001104026.1:p.Val528Met
NM_001456.3:c.1582G>A	NP_001447.2:p.Val528Met
XM_011531127.1:c.1582G>A	XP_011529429.1:p.Val528Met
XM_011531128.1:c.1582G>A	XP_011529430.1:p.Val528Met
XM_011531129.1:c.1582G>A	XP_011529431.1:p.Val528Met
XM_011531130.1:c.1582G>A	XP_011529432.1:p.Val528Met
XM_011531131.1:c.1381G>A	XP_011529433.1:p.Val461Met
NM_001110556.2:c.1582G>A MANE Select	NP_001104026.1:p.Val528Met
NM_001456.4:c.1582G>A	NP_001447.2:p.Val528Met