Canonical Allele Identifier: CA415180901

Gene: FLNA

Linked Data

• ClinVar Variation Id: 521201
• ClinVar RCV Id: RCV004527686 ; RCV002531894 ; RCV004025271
• dbSNP Id: rs1557175308
• gnomAD v2: X-153577901-C-T
• gnomAD v4: X-154349533-C-T
• MyVariant Identifiers: chrX:g.153577901C>T (hg19) ; chrX:g.154349533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349533C>T , CM000685.2:g.154349533C>T	GRCh38
NC_000023.10:g.153577901C>T , CM000685.1:g.153577901C>T	GRCh37
NC_000023.9:g.153231095C>T	NCBI36
NG_011506.1:g.30106G>A
NG_011506.2:g.30106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7561G>A	ENSP00000353467.4:p.Glu2521Lys
ENST00000369850.10:c.7585G>A MANE Select	ENSP00000358866.3:p.Glu2529Lys
ENST00000369856.8:c.7504G>A	ENSP00000358872.4:p.Glu2502Lys
ENST00000422373.6:c.4366G>A	ENSP00000416926.2:p.Glu1456Lys
ENST00000610817.5:c.7642G>A	ENSP00000480593.2:n.7642G>A
ENST00000673639.2:c.280-843G>A
ENST00000676696.1:c.7864G>A	ENSP00000503392.1:n.7864G>A
ENST00000678304.1:n.3303G>A
ENST00000344736.8:c.7465G>A	ENSP00000358863.3:p.Glu2489Lys
ENST00000360319.8:c.7561G>A	ENSP00000353467.4:p.Glu2521Lys
ENST00000369850.7:c.7585G>A	ENSP00000358866.3:p.Glu2529Lys
ENST00000369856.7:c.7504G>A	ENSP00000358872.4:p.Glu2502Lys
ENST00000420627.5:c.7541G>A	ENSP00000408921.1:n.7541G>A
ENST00000422373.5:c.7561G>A	ENSP00000416926.1:p.Glu2521Lys
ENST00000462590.1:n.740G>A
ENST00000490936.5:n.4814G>A
ENST00000498411.1:n.68-703G>A
ENST00000498491.5:n.626G>A
ENST00000610817.4:c.6589G>A	ENSP00000480593.1:p.Glu2197Lys
NM_001110556.1:c.7585G>A	NP_001104026.1:p.Glu2529Lys
NM_001456.3:c.7561G>A	NP_001447.2:p.Glu2521Lys
XM_011531127.1:c.7489G>A	XP_011529429.1:p.Glu2497Lys
XM_011531128.1:c.7465G>A	XP_011529430.1:p.Glu2489Lys
XM_011531129.1:c.7411G>A	XP_011529431.1:p.Glu2471Lys
XM_011531130.1:c.7387G>A	XP_011529432.1:p.Glu2463Lys
XM_011531131.1:c.7384G>A	XP_011529433.1:p.Glu2462Lys
NM_001110556.2:c.7585G>A MANE Select	NP_001104026.1:p.Glu2529Lys
NM_001456.4:c.7561G>A	NP_001447.2:p.Glu2521Lys