Canonical Allele Identifier: CA285492

Gene: FLNA

Linked Data

• ClinVar Variation Id: 93767
• ClinVar RCV Id: RCV000079704 ; RCV000514451 ; RCV000659672 ; RCV001083521 ; RCV001270494 ; RCV002498402 ; RCV004019546
• dbSNP Id: rs187029309
• ExAC: X:153581714 G / A
• gnomAD v2: X-153581714-G-A
• gnomAD v3: X-154353346-G-A
• gnomAD v4: X-154353346-G-A
• MyVariant Identifiers: chrX:g.153581714G>A (hg19) ; chrX:g.154353346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353346G>A , CM000685.2:g.154353346G>A	GRCh38
NC_000023.10:g.153581714G>A , CM000685.1:g.153581714G>A	GRCh37
NC_000023.9:g.153234908G>A	NCBI36
NG_011506.1:g.26293C>T
NG_011506.2:g.26293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5948C>T	ENSP00000353467.4:p.Ser1983Leu
ENST00000369850.10:c.5972C>T MANE Select	ENSP00000358866.3:p.Ser1991Leu
ENST00000369856.8:c.5891C>T	ENSP00000358872.4:p.Ser1964Leu
ENST00000422373.6:c.3161-671C>T	ENSP00000416926.2:n.3161-671C>T
ENST00000610817.5:c.6029C>T	ENSP00000480593.2:n.6029C>T
ENST00000673639.2:c.280-4656C>T
ENST00000676696.1:c.6251C>T	ENSP00000503392.1:n.6251C>T
ENST00000678304.1:n.1151C>T
ENST00000344736.8:c.5852C>T	ENSP00000358863.3:p.Ser1951Leu
ENST00000360319.8:c.5948C>T	ENSP00000353467.4:p.Ser1983Leu
ENST00000369850.7:c.5972C>T	ENSP00000358866.3:p.Ser1991Leu
ENST00000369856.7:c.5891C>T	ENSP00000358872.4:p.Ser1964Leu
ENST00000415241.1:c.157C>T
ENST00000420627.5:c.5928C>T	ENSP00000408921.1:n.5928C>T
ENST00000422373.5:c.5948C>T	ENSP00000416926.1:p.Ser1983Leu
ENST00000438732.2:c.646C>T
ENST00000466325.1:n.111C>T
ENST00000490936.5:n.1961C>T
ENST00000610817.4:c.5844+47C>T	ENSP00000480593.1:n.5844+47C>T
NM_001110556.1:c.5972C>T	NP_001104026.1:p.Ser1991Leu
NM_001456.3:c.5948C>T	NP_001447.2:p.Ser1983Leu
XM_011531127.1:c.5876C>T	XP_011529429.1:p.Ser1959Leu
XM_011531128.1:c.5852C>T	XP_011529430.1:p.Ser1951Leu
XM_011531129.1:c.5798C>T	XP_011529431.1:p.Ser1933Leu
XM_011531130.1:c.5774C>T	XP_011529432.1:p.Ser1925Leu
XM_011531131.1:c.5771C>T	XP_011529433.1:p.Ser1924Leu
NM_001110556.2:c.5972C>T MANE Select	NP_001104026.1:p.Ser1991Leu
NM_001456.4:c.5948C>T	NP_001447.2:p.Ser1983Leu