Canonical Allele Identifier: CA415192993

Gene: FLNA

Linked Data

• MyVariant Identifiers: chrX:g.153581146C>G (hg19) ; chrX:g.154352778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352778C>G , CM000685.2:g.154352778C>G	GRCh38
NC_000023.10:g.153581146C>G , CM000685.1:g.153581146C>G	GRCh37
NC_000023.9:g.153234340C>G	NCBI36
NG_011506.1:g.26861G>C
NG_011506.2:g.26861G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6349G>C	ENSP00000353467.4:p.Val2117Leu
ENST00000369850.10:c.6373G>C MANE Select	ENSP00000358866.3:p.Val2125Leu
ENST00000369856.8:c.6292G>C	ENSP00000358872.4:p.Val2098Leu
ENST00000422373.6:c.3161-103G>C	ENSP00000416926.2:n.3161-103G>C
ENST00000610817.5:c.6430G>C	ENSP00000480593.2:n.6430G>C
ENST00000673639.2:c.280-4088G>C
ENST00000676696.1:c.6652G>C	ENSP00000503392.1:n.6652G>C
ENST00000678304.1:n.1552G>C
ENST00000344736.8:c.6253G>C	ENSP00000358863.3:p.Val2085Leu
ENST00000360319.8:c.6349G>C	ENSP00000353467.4:p.Val2117Leu
ENST00000369850.7:c.6373G>C	ENSP00000358866.3:p.Val2125Leu
ENST00000369856.7:c.6292G>C	ENSP00000358872.4:p.Val2098Leu
ENST00000415241.1:c.575G>C
ENST00000420627.5:c.6329G>C	ENSP00000408921.1:n.6329G>C
ENST00000422373.5:c.6349G>C	ENSP00000416926.1:p.Val2117Leu
ENST00000444578.1:c.316G>C	ENSP00000397824.1:p.Val106Leu
ENST00000466325.1:n.588G>C
ENST00000474358.5:n.6G>C
ENST00000490936.5:n.2362G>C
ENST00000498411.1:n.67+39G>C
ENST00000610817.4:c.5844+615G>C	ENSP00000480593.1:n.5844+615G>C
NM_001110556.1:c.6373G>C	NP_001104026.1:p.Val2125Leu
NM_001456.3:c.6349G>C	NP_001447.2:p.Val2117Leu
XM_011531127.1:c.6277G>C	XP_011529429.1:p.Val2093Leu
XM_011531128.1:c.6253G>C	XP_011529430.1:p.Val2085Leu
XM_011531129.1:c.6199G>C	XP_011529431.1:p.Val2067Leu
XM_011531130.1:c.6175G>C	XP_011529432.1:p.Val2059Leu
XM_011531131.1:c.6172G>C	XP_011529433.1:p.Val2058Leu
NM_001110556.2:c.6373G>C MANE Select	NP_001104026.1:p.Val2125Leu
NM_001456.4:c.6349G>C	NP_001447.2:p.Val2117Leu