Canonical Allele Identifier: CA415196051

Gene: FLNA

Linked Data

• ClinVar Variation Id: 465007
• ClinVar RCV Id: RCV002232266 ; RCV003231644
• dbSNP Id: rs1557176131
• gnomAD v4: X-154353120-G-A
• COSMIC: COSM3559702 ; COSM3559703
• MyVariant Identifiers: chrX:g.153581488G>A (hg19) ; chrX:g.154353120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353120G>A , CM000685.2:g.154353120G>A	GRCh38
NC_000023.10:g.153581488G>A , CM000685.1:g.153581488G>A	GRCh37
NC_000023.9:g.153234682G>A	NCBI36
NG_011506.1:g.26519C>T
NG_011506.2:g.26519C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360319.9:c.6083C>T	ENSP00000353467.4:p.Pro2028Leu
ENST00000369850.10:c.6107C>T MANE Select	ENSP00000358866.3:p.Pro2036Leu
ENST00000369856.8:c.6026C>T	ENSP00000358872.4:p.Pro2009Leu
ENST00000422373.6:c.3161-445C>T	ENSP00000416926.2:n.3161-445C>T
ENST00000610817.5:c.6164C>T	ENSP00000480593.2:n.6164C>T
ENST00000673639.2:c.280-4430C>T
ENST00000676696.1:c.6386C>T	ENSP00000503392.1:n.6386C>T
ENST00000678304.1:n.1286C>T
ENST00000344736.8:c.5987C>T	ENSP00000358863.3:p.Pro1996Leu
ENST00000360319.8:c.6083C>T	ENSP00000353467.4:p.Pro2028Leu
ENST00000369850.7:c.6107C>T	ENSP00000358866.3:p.Pro2036Leu
ENST00000369856.7:c.6026C>T	ENSP00000358872.4:p.Pro2009Leu
ENST00000415241.1:c.309C>T
ENST00000420627.5:c.6063C>T	ENSP00000408921.1:n.6063C>T
ENST00000422373.5:c.6083C>T	ENSP00000416926.1:p.Pro2028Leu
ENST00000444578.1:c.50C>T	ENSP00000397824.1:p.Pro17Leu
ENST00000466325.1:n.246C>T
ENST00000490936.5:n.2096C>T
ENST00000610817.4:c.5844+273C>T	ENSP00000480593.1:n.5844+273C>T
NM_001110556.1:c.6107C>T	NP_001104026.1:p.Pro2036Leu
NM_001456.3:c.6083C>T	NP_001447.2:p.Pro2028Leu
XM_011531127.1:c.6011C>T	XP_011529429.1:p.Pro2004Leu
XM_011531128.1:c.5987C>T	XP_011529430.1:p.Pro1996Leu
XM_011531129.1:c.5933C>T	XP_011529431.1:p.Pro1978Leu
XM_011531130.1:c.5909C>T	XP_011529432.1:p.Pro1970Leu
XM_011531131.1:c.5906C>T	XP_011529433.1:p.Pro1969Leu
NM_001110556.2:c.6107C>T MANE Select	NP_001104026.1:p.Pro2036Leu
NM_001456.4:c.6083C>T	NP_001447.2:p.Pro2028Leu