Canonical Allele Identifier: CA415237182

Gene: FLNA

Linked Data

• ClinVar Variation Id: 948527
• ClinVar RCV Id: RCV001219798
• dbSNP Id: rs201073998
• COSMIC: COSM3721827 ; COSM3721828
• MyVariant Identifiers: chrX:g.153591044C>A (hg19) ; chrX:g.154362676C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362676C>A , CM000685.2:g.154362676C>A	GRCh38
NC_000023.10:g.153591044C>A , CM000685.1:g.153591044C>A	GRCh37
NC_000023.9:g.153244238C>A	NCBI36
NG_011506.1:g.16963G>T
NG_011506.2:g.16963G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2389G>T	ENSP00000353467.4:p.Ala797Ser
ENST00000369850.10:c.2389G>T MANE Select	ENSP00000358866.3:p.Ala797Ser
ENST00000369856.8:c.2308G>T	ENSP00000358872.4:p.Ala770Ser
ENST00000422373.6:c.2389G>T	ENSP00000416926.2:p.Ala797Ser
ENST00000610817.5:c.2446G>T	ENSP00000480593.2:n.2446G>T
ENST00000673639.2:c.279+2760G>T
ENST00000676696.1:c.2668G>T	ENSP00000503392.1:n.2668G>T
ENST00000344736.8:c.2389G>T	ENSP00000358863.3:p.Ala797Ser
ENST00000360319.8:c.2389G>T	ENSP00000353467.4:p.Ala797Ser
ENST00000369850.7:c.2389G>T	ENSP00000358866.3:p.Ala797Ser
ENST00000369856.7:c.2308G>T	ENSP00000358872.4:p.Ala770Ser
ENST00000420627.5:c.2345G>T	ENSP00000408921.1:n.2345G>T
ENST00000422373.5:c.2389G>T	ENSP00000416926.1:p.Ala797Ser
ENST00000610817.4:c.2308G>T	ENSP00000480593.1:p.Ala770Ser
NM_001110556.1:c.2389G>T	NP_001104026.1:p.Ala797Ser
NM_001456.3:c.2389G>T	NP_001447.2:p.Ala797Ser
XM_011531127.1:c.2389G>T	XP_011529429.1:p.Ala797Ser
XM_011531128.1:c.2389G>T	XP_011529430.1:p.Ala797Ser
XM_011531129.1:c.2389G>T	XP_011529431.1:p.Ala797Ser
XM_011531130.1:c.2389G>T	XP_011529432.1:p.Ala797Ser
XM_011531131.1:c.2188G>T	XP_011529433.1:p.Ala730Ser
NM_001110556.2:c.2389G>T MANE Select	NP_001104026.1:p.Ala797Ser
NM_001456.4:c.2389G>T	NP_001447.2:p.Ala797Ser