Canonical Allele Identifier: CA10560273

Gene: FLNA

Linked Data

• ClinVar Variation Id: 405456
• ClinVar RCV Id: RCV000476019 ; RCV002348277 ; RCV002287407
• dbSNP Id: rs782095418
• ExAC: X:153582378 T / C
• gnomAD v2: X-153582378-T-C
• gnomAD v3: X-154354010-T-C
• gnomAD v4: X-154354010-T-C
• MyVariant Identifiers: chrX:g.153582378T>C (hg19) ; chrX:g.154354010T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354010T>C , CM000685.2:g.154354010T>C	GRCh38
NC_000023.10:g.153582378T>C , CM000685.1:g.153582378T>C	GRCh37
NC_000023.9:g.153235572T>C	NCBI36
NG_011506.1:g.25629A>G
NG_011506.2:g.25629A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5567A>G	ENSP00000353467.4:p.Asn1856Ser
ENST00000369850.10:c.5591A>G MANE Select	ENSP00000358866.3:p.Asn1864Ser
ENST00000369856.8:c.5510A>G	ENSP00000358872.4:p.Asn1837Ser
ENST00000422373.6:c.3161-1335A>G	ENSP00000416926.2:n.3161-1335A>G
ENST00000610817.5:c.5648A>G	ENSP00000480593.2:n.5648A>G
ENST00000673639.2:c.280-5320A>G
ENST00000676696.1:c.5870A>G	ENSP00000503392.1:n.5870A>G
ENST00000678304.1:n.770A>G
ENST00000344736.8:c.5471A>G	ENSP00000358863.3:p.Asn1824Ser
ENST00000360319.8:c.5567A>G	ENSP00000353467.4:p.Asn1856Ser
ENST00000369850.7:c.5591A>G	ENSP00000358866.3:p.Asn1864Ser
ENST00000369856.7:c.5510A>G	ENSP00000358872.4:p.Asn1837Ser
ENST00000420627.5:c.5547A>G	ENSP00000408921.1:n.5547A>G
ENST00000422373.5:c.5567A>G	ENSP00000416926.1:p.Asn1856Ser
ENST00000438732.2:c.439A>G
ENST00000490936.5:n.1580A>G
ENST00000610817.4:c.5510A>G	ENSP00000480593.1:p.Asn1837Ser
NM_001110556.1:c.5591A>G	NP_001104026.1:p.Asn1864Ser
NM_001456.3:c.5567A>G	NP_001447.2:p.Asn1856Ser
XM_011531127.1:c.5495A>G	XP_011529429.1:p.Asn1832Ser
XM_011531128.1:c.5471A>G	XP_011529430.1:p.Asn1824Ser
XM_011531129.1:c.5591A>G	XP_011529431.1:p.Asn1864Ser
XM_011531130.1:c.5567A>G	XP_011529432.1:p.Asn1856Ser
XM_011531131.1:c.5390A>G	XP_011529433.1:p.Asn1797Ser
NM_001110556.2:c.5591A>G MANE Select	NP_001104026.1:p.Asn1864Ser
NM_001456.4:c.5567A>G	NP_001447.2:p.Asn1856Ser