Canonical Allele Identifier: CA415176819

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154348863C>G , CM000685.2:g.154348863C>G	GRCh38
NC_000023.10:g.153577231C>G , CM000685.1:g.153577231C>G	GRCh37
NC_000023.9:g.153230425C>G	NCBI36
NG_011506.1:g.30776G>C
NG_011506.2:g.30776G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7930G>C MANE Select	NP_001104026.1:p.Val2644Leu
ENST00000369850.10:c.7930G>C MANE Select	ENSP00000358866.3:p.Val2644Leu
NM_001110556.1:c.7930G>C	NP_001104026.1:p.Val2644Leu
NM_001456.3:c.7906G>C	NP_001447.2:p.Val2636Leu
NM_001456.4:c.7906G>C	NP_001447.2:p.Val2636Leu
ENST00000344736.8:c.7810G>C	ENSP00000358863.3:p.Val2604Leu
ENST00000360319.8:c.7906G>C	ENSP00000353467.4:p.Val2636Leu
ENST00000360319.9:c.7906G>C	ENSP00000353467.4:p.Val2636Leu
ENST00000369850.7:c.7930G>C	ENSP00000358866.3:p.Val2644Leu
ENST00000369856.7:c.7849G>C	ENSP00000358872.4:p.Val2617Leu
ENST00000369856.8:c.7849G>C	ENSP00000358872.4:p.Val2617Leu
ENST00000420627.5:c.7886G>C	ENSP00000408921.1:n.7886G>C
ENST00000422373.5:c.7906G>C	ENSP00000416926.1:p.Val2636Leu
ENST00000422373.6:c.4711G>C	ENSP00000416926.2:p.Val1571Leu
ENST00000490936.5:n.5159G>C
ENST00000498411.1:n.68-33G>C
ENST00000610817.4:c.6934G>C	ENSP00000480593.1:p.Val2312Leu
ENST00000610817.5:c.7987G>C	ENSP00000480593.2:n.7987G>C
ENST00000673639.2:c.280-173G>C
ENST00000676696.1:c.8209G>C	ENSP00000503392.1:n.8209G>C
ENST00000678304.1:n.3648G>C
XM_011531127.1:c.7834G>C	XP_011529429.1:p.Val2612Leu
XM_011531128.1:c.7810G>C	XP_011529430.1:p.Val2604Leu
XM_011531129.1:c.7756G>C	XP_011529431.1:p.Val2586Leu
XM_011531130.1:c.7732G>C	XP_011529432.1:p.Val2578Leu
XM_011531131.1:c.7729G>C	XP_011529433.1:p.Val2577Leu