Canonical Allele Identifier: CA415194505

Gene: FLNA

Linked Data

• gnomAD v4: X-154352901-T-C
• MyVariant Identifiers: chrX:g.153581269T>C (hg19) ; chrX:g.154352901T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352901T>C , CM000685.2:g.154352901T>C	GRCh38
NC_000023.10:g.153581269T>C , CM000685.1:g.153581269T>C	GRCh37
NC_000023.9:g.153234463T>C	NCBI36
NG_011506.1:g.26738A>G
NG_011506.2:g.26738A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6226A>G	ENSP00000353467.4:p.Ile2076Val
ENST00000369850.10:c.6250A>G MANE Select	ENSP00000358866.3:p.Ile2084Val
ENST00000369856.8:c.6169A>G	ENSP00000358872.4:p.Ile2057Val
ENST00000422373.6:c.3161-226A>G	ENSP00000416926.2:n.3161-226A>G
ENST00000610817.5:c.6307A>G	ENSP00000480593.2:n.6307A>G
ENST00000673639.2:c.280-4211A>G
ENST00000676696.1:c.6529A>G	ENSP00000503392.1:n.6529A>G
ENST00000678304.1:n.1429A>G
ENST00000344736.8:c.6130A>G	ENSP00000358863.3:p.Ile2044Val
ENST00000360319.8:c.6226A>G	ENSP00000353467.4:p.Ile2076Val
ENST00000369850.7:c.6250A>G	ENSP00000358866.3:p.Ile2084Val
ENST00000369856.7:c.6169A>G	ENSP00000358872.4:p.Ile2057Val
ENST00000415241.1:c.452A>G
ENST00000420627.5:c.6206A>G	ENSP00000408921.1:n.6206A>G
ENST00000422373.5:c.6226A>G	ENSP00000416926.1:p.Ile2076Val
ENST00000444578.1:c.193A>G	ENSP00000397824.1:p.Ile65Val
ENST00000466325.1:n.465A>G
ENST00000490936.5:n.2239A>G
ENST00000610817.4:c.5844+492A>G	ENSP00000480593.1:n.5844+492A>G
NM_001110556.1:c.6250A>G	NP_001104026.1:p.Ile2084Val
NM_001456.3:c.6226A>G	NP_001447.2:p.Ile2076Val
XM_011531127.1:c.6154A>G	XP_011529429.1:p.Ile2052Val
XM_011531128.1:c.6130A>G	XP_011529430.1:p.Ile2044Val
XM_011531129.1:c.6076A>G	XP_011529431.1:p.Ile2026Val
XM_011531130.1:c.6052A>G	XP_011529432.1:p.Ile2018Val
XM_011531131.1:c.6049A>G	XP_011529433.1:p.Ile2017Val
NM_001110556.2:c.6250A>G MANE Select	NP_001104026.1:p.Ile2084Val
NM_001456.4:c.6226A>G	NP_001447.2:p.Ile2076Val