Canonical Allele Identifier: CA323968

Gene: FLNA

Linked Data

• ClinVar Variation Id: 213507
• ClinVar RCV Id: RCV000199423 ; RCV002315601 ; RCV002515364
• dbSNP Id: rs782605190
• ExAC: X:153586656 T / C
• gnomAD v2: X-153586656-T-C
• gnomAD v3: X-154358288-T-C
• gnomAD v4: X-154358288-T-C
• MyVariant Identifiers: chrX:g.153586656T>C (hg19) ; chrX:g.154358288T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154358288T>C , CM000685.2:g.154358288T>C	GRCh38
NC_000023.10:g.153586656T>C , CM000685.1:g.153586656T>C	GRCh37
NC_000023.9:g.153239850T>C	NCBI36
NG_011506.1:g.21351A>G
NG_011506.2:g.21351A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4666A>G	ENSP00000353467.4:p.Asn1556Asp
ENST00000369850.10:c.4666A>G MANE Select	ENSP00000358866.3:p.Asn1556Asp
ENST00000369856.8:c.4585A>G	ENSP00000358872.4:p.Asn1529Asp
ENST00000422373.6:c.3160+3067A>G	ENSP00000416926.2:n.3160+3067A>G
ENST00000610817.5:c.4723A>G	ENSP00000480593.2:n.4723A>G
ENST00000673639.2:c.279+7148A>G
ENST00000676696.1:c.4945A>G	ENSP00000503392.1:n.4945A>G
ENST00000678304.1:n.148+801A>G
ENST00000344736.8:c.4666A>G	ENSP00000358863.3:p.Asn1556Asp
ENST00000360319.8:c.4666A>G	ENSP00000353467.4:p.Asn1556Asp
ENST00000369850.7:c.4666A>G	ENSP00000358866.3:p.Asn1556Asp
ENST00000369856.7:c.4585A>G	ENSP00000358872.4:p.Asn1529Asp
ENST00000420627.5:c.4622A>G	ENSP00000408921.1:n.4622A>G
ENST00000422373.5:c.4666A>G	ENSP00000416926.1:p.Asn1556Asp
ENST00000466319.1:n.288A>G
ENST00000490936.5:n.679A>G
ENST00000610817.4:c.4585A>G	ENSP00000480593.1:p.Asn1529Asp
NM_001110556.1:c.4666A>G	NP_001104026.1:p.Asn1556Asp
NM_001456.3:c.4666A>G	NP_001447.2:p.Asn1556Asp
XM_011531127.1:c.4666A>G	XP_011529429.1:p.Asn1556Asp
XM_011531128.1:c.4666A>G	XP_011529430.1:p.Asn1556Asp
XM_011531129.1:c.4666A>G	XP_011529431.1:p.Asn1556Asp
XM_011531130.1:c.4666A>G	XP_011529432.1:p.Asn1556Asp
XM_011531131.1:c.4465A>G	XP_011529433.1:p.Asn1489Asp
NM_001110556.2:c.4666A>G MANE Select	NP_001104026.1:p.Asn1556Asp
NM_001456.4:c.4666A>G	NP_001447.2:p.Asn1556Asp