Canonical Allele Identifier: CA10560236

Gene: FLNA

Linked Data

• ClinVar Variation Id: 519875
• ClinVar RCV Id: RCV000728023 ; RCV001080153 ; RCV002313356
• dbSNP Id: rs367674709
• ExAC: X:153582067 C / T
• gnomAD v2: X-153582067-C-T
• gnomAD v3: X-154353699-C-T
• gnomAD v4: X-154353699-C-T
• MyVariant Identifiers: chrX:g.153582067C>T (hg19) ; chrX:g.154353699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353699C>T , CM000685.2:g.154353699C>T	GRCh38
NC_000023.10:g.153582067C>T , CM000685.1:g.153582067C>T	GRCh37
NC_000023.9:g.153235261C>T	NCBI36
NG_011506.1:g.25940G>A
NG_011506.2:g.25940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5691G>A	ENSP00000353467.4:p.Pro1897=
ENST00000369850.10:c.5715G>A MANE Select	ENSP00000358866.3:p.Pro1905=
ENST00000369856.8:c.5634G>A	ENSP00000358872.4:p.Pro1878=
ENST00000422373.6:c.3161-1024G>A	ENSP00000416926.2:n.3161-1024G>A
ENST00000610817.5:c.5772G>A	ENSP00000480593.2:n.5772G>A
ENST00000673639.2:c.280-5009G>A
ENST00000676696.1:c.5994G>A	ENSP00000503392.1:n.5994G>A
ENST00000678304.1:n.894G>A
ENST00000344736.8:c.5595G>A	ENSP00000358863.3:p.Pro1865=
ENST00000360319.8:c.5691G>A	ENSP00000353467.4:p.Pro1897=
ENST00000369850.7:c.5715G>A	ENSP00000358866.3:p.Pro1905=
ENST00000369856.7:c.5634G>A	ENSP00000358872.4:p.Pro1878=
ENST00000420627.5:c.5671G>A	ENSP00000408921.1:n.5671G>A
ENST00000422373.5:c.5691G>A	ENSP00000416926.1:p.Pro1897=
ENST00000438732.2:c.534+216G>A
ENST00000490936.5:n.1704G>A
ENST00000610817.4:c.5634G>A	ENSP00000480593.1:p.Pro1878=
NM_001110556.1:c.5715G>A	NP_001104026.1:p.Pro1905=
NM_001456.3:c.5691G>A	NP_001447.2:p.Pro1897=
XM_011531127.1:c.5619G>A	XP_011529429.1:p.Pro1873=
XM_011531128.1:c.5595G>A	XP_011529430.1:p.Pro1865=
XM_011531129.1:c.5686+216G>A	XP_011529431.1:n.5686+216G>A
XM_011531130.1:c.5662+216G>A	XP_011529432.1:n.5662+216G>A
XM_011531131.1:c.5514G>A	XP_011529433.1:p.Pro1838=
NM_001110556.2:c.5715G>A MANE Select	NP_001104026.1:p.Pro1905=
NM_001456.4:c.5691G>A	NP_001447.2:p.Pro1897=