Canonical Allele Identifier: CA10560167

Gene: FLNA

Linked Data

• dbSNP Id: rs782417775
• ExAC: X:153581513 G / T
• gnomAD v2: X-153581513-G-T
• gnomAD v4: X-154353145-G-T
• MyVariant Identifiers: chrX:g.153581513G>T (hg19) ; chrX:g.154353145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353145G>T , CM000685.2:g.154353145G>T	GRCh38
NC_000023.10:g.153581513G>T , CM000685.1:g.153581513G>T	GRCh37
NC_000023.9:g.153234707G>T	NCBI36
NG_011506.1:g.26494C>A
NG_011506.2:g.26494C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6058C>A	ENSP00000353467.4:p.Gln2020Lys
ENST00000369850.10:c.6082C>A MANE Select	ENSP00000358866.3:p.Gln2028Lys
ENST00000369856.8:c.6001C>A	ENSP00000358872.4:p.Gln2001Lys
ENST00000422373.6:c.3161-470C>A	ENSP00000416926.2:n.3161-470C>A
ENST00000610817.5:c.6139C>A	ENSP00000480593.2:n.6139C>A
ENST00000673639.2:c.280-4455C>A
ENST00000676696.1:c.6361C>A	ENSP00000503392.1:n.6361C>A
ENST00000678304.1:n.1261C>A
ENST00000344736.8:c.5962C>A	ENSP00000358863.3:p.Gln1988Lys
ENST00000360319.8:c.6058C>A	ENSP00000353467.4:p.Gln2020Lys
ENST00000369850.7:c.6082C>A	ENSP00000358866.3:p.Gln2028Lys
ENST00000369856.7:c.6001C>A	ENSP00000358872.4:p.Gln2001Lys
ENST00000415241.1:c.284C>A
ENST00000420627.5:c.6038C>A	ENSP00000408921.1:n.6038C>A
ENST00000422373.5:c.6058C>A	ENSP00000416926.1:p.Gln2020Lys
ENST00000444578.1:c.25C>A	ENSP00000397824.1:p.Gln9Lys
ENST00000466325.1:n.221C>A
ENST00000490936.5:n.2071C>A
ENST00000610817.4:c.5844+248C>A	ENSP00000480593.1:n.5844+248C>A
NM_001110556.1:c.6082C>A	NP_001104026.1:p.Gln2028Lys
NM_001456.3:c.6058C>A	NP_001447.2:p.Gln2020Lys
XM_011531127.1:c.5986C>A	XP_011529429.1:p.Gln1996Lys
XM_011531128.1:c.5962C>A	XP_011529430.1:p.Gln1988Lys
XM_011531129.1:c.5908C>A	XP_011529431.1:p.Gln1970Lys
XM_011531130.1:c.5884C>A	XP_011529432.1:p.Gln1962Lys
XM_011531131.1:c.5881C>A	XP_011529433.1:p.Gln1961Lys
NM_001110556.2:c.6082C>A MANE Select	NP_001104026.1:p.Gln2028Lys
NM_001456.4:c.6058C>A	NP_001447.2:p.Gln2020Lys