Canonical Allele Identifier: CA10560194

Gene: FLNA

Linked Data

• ClinVar Variation Id: 533597
• ClinVar RCV Id: RCV001430058 ; RCV003162883
• dbSNP Id: rs372351673
• ExAC: X:153581719 C / T
• gnomAD v2: X-153581719-C-T
• gnomAD v3: X-154353351-C-T
• gnomAD v4: X-154353351-C-T
• COSMIC: COSM3406143 ; COSM3406144
• MyVariant Identifiers: chrX:g.153581719C>T (hg19) ; chrX:g.154353351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353351C>T , CM000685.2:g.154353351C>T	GRCh38
NC_000023.10:g.153581719C>T , CM000685.1:g.153581719C>T	GRCh37
NC_000023.9:g.153234913C>T	NCBI36
NG_011506.1:g.26288G>A
NG_011506.2:g.26288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5943G>A	ENSP00000353467.4:p.Pro1981=
ENST00000369850.10:c.5967G>A MANE Select	ENSP00000358866.3:p.Pro1989=
ENST00000369856.8:c.5886G>A	ENSP00000358872.4:p.Pro1962=
ENST00000422373.6:c.3161-676G>A	ENSP00000416926.2:n.3161-676G>A
ENST00000610817.5:c.6024G>A	ENSP00000480593.2:n.6024G>A
ENST00000673639.2:c.280-4661G>A
ENST00000676696.1:c.6246G>A	ENSP00000503392.1:n.6246G>A
ENST00000678304.1:n.1146G>A
ENST00000344736.8:c.5847G>A	ENSP00000358863.3:p.Pro1949=
ENST00000360319.8:c.5943G>A	ENSP00000353467.4:p.Pro1981=
ENST00000369850.7:c.5967G>A	ENSP00000358866.3:p.Pro1989=
ENST00000369856.7:c.5886G>A	ENSP00000358872.4:p.Pro1962=
ENST00000415241.1:c.152G>A
ENST00000420627.5:c.5923G>A	ENSP00000408921.1:n.5923G>A
ENST00000422373.5:c.5943G>A	ENSP00000416926.1:p.Pro1981=
ENST00000438732.2:c.641G>A
ENST00000466325.1:n.106G>A
ENST00000490936.5:n.1956G>A
ENST00000610817.4:c.5844+42G>A	ENSP00000480593.1:n.5844+42G>A
NM_001110556.1:c.5967G>A	NP_001104026.1:p.Pro1989=
NM_001456.3:c.5943G>A	NP_001447.2:p.Pro1981=
XM_011531127.1:c.5871G>A	XP_011529429.1:p.Pro1957=
XM_011531128.1:c.5847G>A	XP_011529430.1:p.Pro1949=
XM_011531129.1:c.5793G>A	XP_011529431.1:p.Pro1931=
XM_011531130.1:c.5769G>A	XP_011529432.1:p.Pro1923=
XM_011531131.1:c.5766G>A	XP_011529433.1:p.Pro1922=
NM_001110556.2:c.5967G>A MANE Select	NP_001104026.1:p.Pro1989=
NM_001456.4:c.5943G>A	NP_001447.2:p.Pro1981=