Canonical Allele Identifier: CA10577654

Gene: FLNA

Linked Data

• ClinVar Variation Id: 234717
• ClinVar RCV Id: RCV000215801 ; RCV001224993
• dbSNP Id: rs782308324
• gnomAD v4: X-154350109-G-A
• MyVariant Identifiers: chrX:g.153578477G>A (hg19) ; chrX:g.154350109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154350109G>A , CM000685.2:g.154350109G>A	GRCh38
NC_000023.10:g.153578477G>A , CM000685.1:g.153578477G>A	GRCh37
NC_000023.9:g.153231671G>A	NCBI36
NG_011506.1:g.29530C>T
NG_011506.2:g.29530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7231C>T	ENSP00000353467.4:p.Arg2411Ter
ENST00000369850.10:c.7255C>T MANE Select	ENSP00000358866.3:p.Arg2419Ter
ENST00000369856.8:c.7174C>T	ENSP00000358872.4:p.Arg2392Ter
ENST00000422373.6:c.4036C>T	ENSP00000416926.2:p.Arg1346Ter
ENST00000610817.5:c.7312C>T	ENSP00000480593.2:n.7312C>T
ENST00000673639.2:c.280-1419C>T
ENST00000676696.1:c.7534C>T	ENSP00000503392.1:n.7534C>T
ENST00000678304.1:n.2973C>T
ENST00000344736.8:c.7135C>T	ENSP00000358863.3:p.Arg2379Ter
ENST00000360319.8:c.7231C>T	ENSP00000353467.4:p.Arg2411Ter
ENST00000369850.7:c.7255C>T	ENSP00000358866.3:p.Arg2419Ter
ENST00000369856.7:c.7174C>T	ENSP00000358872.4:p.Arg2392Ter
ENST00000420627.5:c.7211C>T	ENSP00000408921.1:n.7211C>T
ENST00000422373.5:c.7231C>T	ENSP00000416926.1:p.Arg2411Ter
ENST00000462590.1:n.247C>T
ENST00000490936.5:n.4484C>T
ENST00000498411.1:n.68-1279C>T
ENST00000498491.5:n.296C>T
ENST00000610817.4:c.6259C>T	ENSP00000480593.1:p.Arg2087Ter
NM_001110556.1:c.7255C>T	NP_001104026.1:p.Arg2419Ter
NM_001456.3:c.7231C>T	NP_001447.2:p.Arg2411Ter
XM_011531127.1:c.7159C>T	XP_011529429.1:p.Arg2387Ter
XM_011531128.1:c.7135C>T	XP_011529430.1:p.Arg2379Ter
XM_011531129.1:c.7081C>T	XP_011529431.1:p.Arg2361Ter
XM_011531130.1:c.7057C>T	XP_011529432.1:p.Arg2353Ter
XM_011531131.1:c.7054C>T	XP_011529433.1:p.Arg2352Ter
NM_001110556.2:c.7255C>T MANE Select	NP_001104026.1:p.Arg2419Ter
NM_001456.4:c.7231C>T	NP_001447.2:p.Arg2411Ter