Canonical Allele Identifier: CA415192719

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1384316
• ClinVar RCV Id: RCV001895907
• dbSNP Id: rs1277448008
• gnomAD v3: X-154352670-G-A
• gnomAD v4: X-154352670-G-A
• MyVariant Identifiers: chrX:g.153581038G>A (hg19) ; chrX:g.154352670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352670G>A , CM000685.2:g.154352670G>A	GRCh38
NC_000023.10:g.153581038G>A , CM000685.1:g.153581038G>A	GRCh37
NC_000023.9:g.153234232G>A	NCBI36
NG_011506.1:g.26969C>T
NG_011506.2:g.26969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6361C>T	ENSP00000353467.4:p.Pro2121Ser
ENST00000369850.10:c.6385C>T MANE Select	ENSP00000358866.3:p.Pro2129Ser
ENST00000369856.8:c.6304C>T	ENSP00000358872.4:p.Pro2102Ser
ENST00000422373.6:c.3166C>T	ENSP00000416926.2:p.Pro1056Ser
ENST00000610817.5:c.6442C>T	ENSP00000480593.2:n.6442C>T
ENST00000673639.2:c.280-3980C>T
ENST00000676696.1:c.6664C>T	ENSP00000503392.1:n.6664C>T
ENST00000678304.1:n.1564C>T
ENST00000344736.8:c.6265C>T	ENSP00000358863.3:p.Pro2089Ser
ENST00000360319.8:c.6361C>T	ENSP00000353467.4:p.Pro2121Ser
ENST00000369850.7:c.6385C>T	ENSP00000358866.3:p.Pro2129Ser
ENST00000369856.7:c.6304C>T	ENSP00000358872.4:p.Pro2102Ser
ENST00000415241.1:c.587C>T
ENST00000420627.5:c.6341C>T	ENSP00000408921.1:n.6341C>T
ENST00000422373.5:c.6361C>T	ENSP00000416926.1:p.Pro2121Ser
ENST00000444578.1:c.322+102C>T	ENSP00000397824.1:n.322+102C>T
ENST00000466325.1:n.696C>T
ENST00000474358.5:n.18C>T
ENST00000490936.5:n.2374C>T
ENST00000498411.1:n.67+147C>T
ENST00000610817.4:c.5845-720C>T	ENSP00000480593.1:n.5845-720C>T
NM_001110556.1:c.6385C>T	NP_001104026.1:p.Pro2129Ser
NM_001456.3:c.6361C>T	NP_001447.2:p.Pro2121Ser
XM_011531127.1:c.6289C>T	XP_011529429.1:p.Pro2097Ser
XM_011531128.1:c.6265C>T	XP_011529430.1:p.Pro2089Ser
XM_011531129.1:c.6211C>T	XP_011529431.1:p.Pro2071Ser
XM_011531130.1:c.6187C>T	XP_011529432.1:p.Pro2063Ser
XM_011531131.1:c.6184C>T	XP_011529433.1:p.Pro2062Ser
NM_001110556.2:c.6385C>T MANE Select	NP_001104026.1:p.Pro2129Ser
NM_001456.4:c.6361C>T	NP_001447.2:p.Pro2121Ser