Canonical Allele Identifier: CA323321

Gene: FLNA

Linked Data

• ClinVar Variation Id: 213517
• ClinVar RCV Id: RCV000198798 ; RCV002229105 ; RCV002381669 ; RCV001721274 ; RCV004541259
• dbSNP Id: rs781915319
• ExAC: X:153594530 C / G
• gnomAD v2: X-153594530-C-G
• gnomAD v3: X-154366162-C-G
• gnomAD v4: X-154366162-C-G
• MyVariant Identifiers: chrX:g.153594530C>G (hg19) ; chrX:g.154366162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154366162C>G , CM000685.2:g.154366162C>G	GRCh38
NC_000023.10:g.153594530C>G , CM000685.1:g.153594530C>G	GRCh37
NC_000023.9:g.153247724C>G	NCBI36
NG_011506.1:g.13477G>C
NG_011506.2:g.13477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.1291G>C	ENSP00000353467.4:p.Glu431Gln
ENST00000369850.10:c.1291G>C MANE Select	ENSP00000358866.3:p.Glu431Gln
ENST00000369856.8:c.1210G>C	ENSP00000358872.4:p.Glu404Gln
ENST00000422373.6:c.1291G>C	ENSP00000416926.2:p.Glu431Gln
ENST00000610817.5:c.1291G>C	ENSP00000480593.2:p.Glu431Gln
ENST00000673639.2:c.90G>C
ENST00000676696.1:c.1291G>C	ENSP00000503392.1:p.Glu431Gln
ENST00000344736.8:c.1291G>C	ENSP00000358863.3:p.Glu431Gln
ENST00000360319.8:c.1291G>C	ENSP00000353467.4:p.Glu431Gln
ENST00000369850.7:c.1291G>C	ENSP00000358866.3:p.Glu431Gln
ENST00000369856.7:c.1210G>C	ENSP00000358872.4:p.Glu404Gln
ENST00000420627.5:c.1249G>C	ENSP00000408921.1:p.Glu417Gln
ENST00000422373.5:c.1291G>C	ENSP00000416926.1:p.Glu431Gln
ENST00000610817.4:c.1210G>C	ENSP00000480593.1:p.Glu404Gln
NM_001110556.1:c.1291G>C	NP_001104026.1:p.Glu431Gln
NM_001456.3:c.1291G>C	NP_001447.2:p.Glu431Gln
XM_011531127.1:c.1291G>C	XP_011529429.1:p.Glu431Gln
XM_011531128.1:c.1291G>C	XP_011529430.1:p.Glu431Gln
XM_011531129.1:c.1291G>C	XP_011529431.1:p.Glu431Gln
XM_011531130.1:c.1291G>C	XP_011529432.1:p.Glu431Gln
XM_011531131.1:c.1228+146G>C	XP_011529433.1:n.1228+146G>C
NM_001110556.2:c.1291G>C MANE Select	NP_001104026.1:p.Glu431Gln
NM_001456.4:c.1291G>C	NP_001447.2:p.Glu431Gln