Canonical Allele Identifier: CA519705980

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349809C>G , CM000685.2:g.154349809C>G	GRCh38
NC_000023.10:g.153578177C>G , CM000685.1:g.153578177C>G	GRCh37
NC_000023.9:g.153231371C>G	NCBI36
NG_011506.1:g.29830G>C
NG_011506.2:g.29830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7368G>C	ENSP00000353467.4:p.Val2456=
ENST00000369850.10:c.7392G>C MANE Select	ENSP00000358866.3:p.Val2464=
ENST00000369856.8:c.7311G>C	ENSP00000358872.4:p.Val2437=
ENST00000422373.6:c.4173G>C	ENSP00000416926.2:p.Val1391=
ENST00000610817.5:c.7449G>C	ENSP00000480593.2:n.7449G>C
ENST00000673639.2:c.280-1119G>C
ENST00000676696.1:c.7671G>C	ENSP00000503392.1:n.7671G>C
ENST00000678304.1:n.3110G>C
ENST00000344736.8:c.7272G>C	ENSP00000358863.3:p.Val2424=
ENST00000360319.8:c.7368G>C	ENSP00000353467.4:p.Val2456=
ENST00000369850.7:c.7392G>C	ENSP00000358866.3:p.Val2464=
ENST00000369856.7:c.7311G>C	ENSP00000358872.4:p.Val2437=
ENST00000420627.5:c.7348G>C	ENSP00000408921.1:n.7348G>C
ENST00000422373.5:c.7368G>C	ENSP00000416926.1:p.Val2456=
ENST00000462590.1:n.547G>C
ENST00000490936.5:n.4621G>C
ENST00000498411.1:n.68-979G>C
ENST00000498491.5:n.433G>C
ENST00000610817.4:c.6396G>C	ENSP00000480593.1:p.Val2132=
NM_001110556.1:c.7392G>C	NP_001104026.1:p.Val2464=
NM_001456.3:c.7368G>C	NP_001447.2:p.Val2456=
XM_011531127.1:c.7296G>C	XP_011529429.1:p.Val2432=
XM_011531128.1:c.7272G>C	XP_011529430.1:p.Val2424=
XM_011531129.1:c.7218G>C	XP_011529431.1:p.Val2406=
XM_011531130.1:c.7194G>C	XP_011529432.1:p.Val2398=
XM_011531131.1:c.7191G>C	XP_011529433.1:p.Val2397=
NM_001110556.2:c.7392G>C MANE Select	NP_001104026.1:p.Val2464=
NM_001456.4:c.7368G>C	NP_001447.2:p.Val2456=