Canonical Allele Identifier: CA415195752

Gene: FLNA

Linked Data

• MyVariant Identifiers: chrX:g.153581447C>A (hg19) ; chrX:g.154353079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353079C>A , CM000685.2:g.154353079C>A	GRCh38
NC_000023.10:g.153581447C>A , CM000685.1:g.153581447C>A	GRCh37
NC_000023.9:g.153234641C>A	NCBI36
NG_011506.1:g.26560G>T
NG_011506.2:g.26560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6124G>T	ENSP00000353467.4:p.Val2042Phe
ENST00000369850.10:c.6148G>T MANE Select	ENSP00000358866.3:p.Val2050Phe
ENST00000369856.8:c.6067G>T	ENSP00000358872.4:p.Val2023Phe
ENST00000422373.6:c.3161-404G>T	ENSP00000416926.2:n.3161-404G>T
ENST00000610817.5:c.6205G>T	ENSP00000480593.2:n.6205G>T
ENST00000673639.2:c.280-4389G>T
ENST00000676696.1:c.6427G>T	ENSP00000503392.1:n.6427G>T
ENST00000678304.1:n.1327G>T
ENST00000344736.8:c.6028G>T	ENSP00000358863.3:p.Val2010Phe
ENST00000360319.8:c.6124G>T	ENSP00000353467.4:p.Val2042Phe
ENST00000369850.7:c.6148G>T	ENSP00000358866.3:p.Val2050Phe
ENST00000369856.7:c.6067G>T	ENSP00000358872.4:p.Val2023Phe
ENST00000415241.1:c.350G>T
ENST00000420627.5:c.6104G>T	ENSP00000408921.1:n.6104G>T
ENST00000422373.5:c.6124G>T	ENSP00000416926.1:p.Val2042Phe
ENST00000444578.1:c.91G>T	ENSP00000397824.1:p.Val31Phe
ENST00000466325.1:n.287G>T
ENST00000490936.5:n.2137G>T
ENST00000610817.4:c.5844+314G>T	ENSP00000480593.1:n.5844+314G>T
NM_001110556.1:c.6148G>T	NP_001104026.1:p.Val2050Phe
NM_001456.3:c.6124G>T	NP_001447.2:p.Val2042Phe
XM_011531127.1:c.6052G>T	XP_011529429.1:p.Val2018Phe
XM_011531128.1:c.6028G>T	XP_011529430.1:p.Val2010Phe
XM_011531129.1:c.5974G>T	XP_011529431.1:p.Val1992Phe
XM_011531130.1:c.5950G>T	XP_011529432.1:p.Val1984Phe
XM_011531131.1:c.5947G>T	XP_011529433.1:p.Val1983Phe
NM_001110556.2:c.6148G>T MANE Select	NP_001104026.1:p.Val2050Phe
NM_001456.4:c.6124G>T	NP_001447.2:p.Val2042Phe