Canonical Allele Identifier: CA415197151

Gene: FLNA

Linked Data

• dbSNP Id: rs2067636520
• MyVariant Identifiers: chrX:g.153581691G>C (hg19) ; chrX:g.154353323G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353323G>C , CM000685.2:g.154353323G>C	GRCh38
NC_000023.10:g.153581691G>C , CM000685.1:g.153581691G>C	GRCh37
NC_000023.9:g.153234885G>C	NCBI36
NG_011506.1:g.26316C>G
NG_011506.2:g.26316C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5971C>G	ENSP00000353467.4:p.Leu1991Val
ENST00000369850.10:c.5995C>G MANE Select	ENSP00000358866.3:p.Leu1999Val
ENST00000369856.8:c.5914C>G	ENSP00000358872.4:p.Leu1972Val
ENST00000422373.6:c.3161-648C>G	ENSP00000416926.2:n.3161-648C>G
ENST00000610817.5:c.6052C>G	ENSP00000480593.2:n.6052C>G
ENST00000673639.2:c.280-4633C>G
ENST00000676696.1:c.6274C>G	ENSP00000503392.1:n.6274C>G
ENST00000678304.1:n.1174C>G
ENST00000344736.8:c.5875C>G	ENSP00000358863.3:p.Leu1959Val
ENST00000360319.8:c.5971C>G	ENSP00000353467.4:p.Leu1991Val
ENST00000369850.7:c.5995C>G	ENSP00000358866.3:p.Leu1999Val
ENST00000369856.7:c.5914C>G	ENSP00000358872.4:p.Leu1972Val
ENST00000415241.1:c.180C>G
ENST00000420627.5:c.5951C>G	ENSP00000408921.1:n.5951C>G
ENST00000422373.5:c.5971C>G	ENSP00000416926.1:p.Leu1991Val
ENST00000438732.2:c.669C>G
ENST00000466325.1:n.134C>G
ENST00000490936.5:n.1984C>G
ENST00000610817.4:c.5844+70C>G	ENSP00000480593.1:n.5844+70C>G
NM_001110556.1:c.5995C>G	NP_001104026.1:p.Leu1999Val
NM_001456.3:c.5971C>G	NP_001447.2:p.Leu1991Val
XM_011531127.1:c.5899C>G	XP_011529429.1:p.Leu1967Val
XM_011531128.1:c.5875C>G	XP_011529430.1:p.Leu1959Val
XM_011531129.1:c.5821C>G	XP_011529431.1:p.Leu1941Val
XM_011531130.1:c.5797C>G	XP_011529432.1:p.Leu1933Val
XM_011531131.1:c.5794C>G	XP_011529433.1:p.Leu1932Val
NM_001110556.2:c.5995C>G MANE Select	NP_001104026.1:p.Leu1999Val
NM_001456.4:c.5971C>G	NP_001447.2:p.Leu1991Val