Canonical Allele Identifier: CA415196663

Gene: FLNA

Linked Data

• dbSNP Id: rs1226982948
• gnomAD v2: X-153581561-C-A
• gnomAD v3: X-154353193-C-A
• gnomAD v4: X-154353193-C-A
• MyVariant Identifiers: chrX:g.153581561C>A (hg19) ; chrX:g.154353193C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353193C>A , CM000685.2:g.154353193C>A	GRCh38
NC_000023.10:g.153581561C>A , CM000685.1:g.153581561C>A	GRCh37
NC_000023.9:g.153234755C>A	NCBI36
NG_011506.1:g.26446G>T
NG_011506.2:g.26446G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6010G>T	ENSP00000353467.4:p.Val2004Leu
ENST00000369850.10:c.6034G>T MANE Select	ENSP00000358866.3:p.Val2012Leu
ENST00000369856.8:c.5953G>T	ENSP00000358872.4:p.Val1985Leu
ENST00000422373.6:c.3161-518G>T	ENSP00000416926.2:n.3161-518G>T
ENST00000610817.5:c.6091G>T	ENSP00000480593.2:n.6091G>T
ENST00000673639.2:c.280-4503G>T
ENST00000676696.1:c.6313G>T	ENSP00000503392.1:n.6313G>T
ENST00000678304.1:n.1213G>T
ENST00000344736.8:c.5914G>T	ENSP00000358863.3:p.Val1972Leu
ENST00000360319.8:c.6010G>T	ENSP00000353467.4:p.Val2004Leu
ENST00000369850.7:c.6034G>T	ENSP00000358866.3:p.Val2012Leu
ENST00000369856.7:c.5953G>T	ENSP00000358872.4:p.Val1985Leu
ENST00000415241.1:c.236G>T
ENST00000420627.5:c.5990G>T	ENSP00000408921.1:n.5990G>T
ENST00000422373.5:c.6010G>T	ENSP00000416926.1:p.Val2004Leu
ENST00000466325.1:n.173G>T
ENST00000490936.5:n.2023G>T
ENST00000610817.4:c.5844+200G>T	ENSP00000480593.1:n.5844+200G>T
NM_001110556.1:c.6034G>T	NP_001104026.1:p.Val2012Leu
NM_001456.3:c.6010G>T	NP_001447.2:p.Val2004Leu
XM_011531127.1:c.5938G>T	XP_011529429.1:p.Val1980Leu
XM_011531128.1:c.5914G>T	XP_011529430.1:p.Val1972Leu
XM_011531129.1:c.5860G>T	XP_011529431.1:p.Val1954Leu
XM_011531130.1:c.5836G>T	XP_011529432.1:p.Val1946Leu
XM_011531131.1:c.5833G>T	XP_011529433.1:p.Val1945Leu
NM_001110556.2:c.6034G>T MANE Select	NP_001104026.1:p.Val2012Leu
NM_001456.4:c.6010G>T	NP_001447.2:p.Val2004Leu