Canonical Allele Identifier: CA415180992

Gene: FLNA

Linked Data

• ClinVar Variation Id: 519893
• ClinVar RCV Id: RCV001855278 ; RCV002313372
• dbSNP Id: rs1485769153
• gnomAD v2: X-153577909-C-T
• gnomAD v3: X-154349541-C-T
• gnomAD v4: X-154349541-C-T
• MyVariant Identifiers: chrX:g.153577909C>T (hg19) ; chrX:g.154349541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154349541C>T , CM000685.2:g.154349541C>T	GRCh38
NC_000023.10:g.153577909C>T , CM000685.1:g.153577909C>T	GRCh37
NC_000023.9:g.153231103C>T	NCBI36
NG_011506.1:g.30098G>A
NG_011506.2:g.30098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7553G>A	ENSP00000353467.4:p.Ser2518Asn
ENST00000369850.10:c.7577G>A MANE Select	ENSP00000358866.3:p.Ser2526Asn
ENST00000369856.8:c.7496G>A	ENSP00000358872.4:p.Ser2499Asn
ENST00000422373.6:c.4358G>A	ENSP00000416926.2:p.Ser1453Asn
ENST00000610817.5:c.7634G>A	ENSP00000480593.2:n.7634G>A
ENST00000673639.2:c.280-851G>A
ENST00000676696.1:c.7856G>A	ENSP00000503392.1:n.7856G>A
ENST00000678304.1:n.3295G>A
ENST00000344736.8:c.7457G>A	ENSP00000358863.3:p.Ser2486Asn
ENST00000360319.8:c.7553G>A	ENSP00000353467.4:p.Ser2518Asn
ENST00000369850.7:c.7577G>A	ENSP00000358866.3:p.Ser2526Asn
ENST00000369856.7:c.7496G>A	ENSP00000358872.4:p.Ser2499Asn
ENST00000420627.5:c.7533G>A	ENSP00000408921.1:n.7533G>A
ENST00000422373.5:c.7553G>A	ENSP00000416926.1:p.Ser2518Asn
ENST00000462590.1:n.732G>A
ENST00000490936.5:n.4806G>A
ENST00000498411.1:n.68-711G>A
ENST00000498491.5:n.618G>A
ENST00000610817.4:c.6581G>A	ENSP00000480593.1:p.Ser2194Asn
NM_001110556.1:c.7577G>A	NP_001104026.1:p.Ser2526Asn
NM_001456.3:c.7553G>A	NP_001447.2:p.Ser2518Asn
XM_011531127.1:c.7481G>A	XP_011529429.1:p.Ser2494Asn
XM_011531128.1:c.7457G>A	XP_011529430.1:p.Ser2486Asn
XM_011531129.1:c.7403G>A	XP_011529431.1:p.Ser2468Asn
XM_011531130.1:c.7379G>A	XP_011529432.1:p.Ser2460Asn
XM_011531131.1:c.7376G>A	XP_011529433.1:p.Ser2459Asn
NM_001110556.2:c.7577G>A MANE Select	NP_001104026.1:p.Ser2526Asn
NM_001456.4:c.7553G>A	NP_001447.2:p.Ser2518Asn