Canonical Allele Identifier: CA245806

Gene: FLNA

Linked Data

• ClinVar Variation Id: 197562
• ClinVar RCV Id: RCV000178622 ; RCV002516777 ; RCV002408772
• dbSNP Id: rs782372740
• ExAC: X:153577367 C / T
• gnomAD v2: X-153577367-C-T
• gnomAD v4: X-154348999-C-T
• MyVariant Identifiers: chrX:g.153577367C>T (hg19) ; chrX:g.154348999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154348999C>T , CM000685.2:g.154348999C>T	GRCh38
NC_000023.10:g.153577367C>T , CM000685.1:g.153577367C>T	GRCh37
NC_000023.9:g.153230561C>T	NCBI36
NG_011506.1:g.30640G>A
NG_011506.2:g.30640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.7770G>A	ENSP00000353467.4:p.Arg2590=
ENST00000369850.10:c.7794G>A MANE Select	ENSP00000358866.3:p.Arg2598=
ENST00000369856.8:c.7713G>A	ENSP00000358872.4:p.Arg2571=
ENST00000422373.6:c.4575G>A	ENSP00000416926.2:p.Arg1525=
ENST00000610817.5:c.7851G>A	ENSP00000480593.2:n.7851G>A
ENST00000673639.2:c.280-309G>A
ENST00000676696.1:c.8073G>A	ENSP00000503392.1:n.8073G>A
ENST00000678304.1:n.3512G>A
ENST00000344736.8:c.7674G>A	ENSP00000358863.3:p.Arg2558=
ENST00000360319.8:c.7770G>A	ENSP00000353467.4:p.Arg2590=
ENST00000369850.7:c.7794G>A	ENSP00000358866.3:p.Arg2598=
ENST00000369856.7:c.7713G>A	ENSP00000358872.4:p.Arg2571=
ENST00000420627.5:c.7750G>A	ENSP00000408921.1:n.7750G>A
ENST00000422373.5:c.7770G>A	ENSP00000416926.1:p.Arg2590=
ENST00000462590.1:n.949G>A
ENST00000490936.5:n.5023G>A
ENST00000498411.1:n.68-169G>A
ENST00000498491.5:n.835G>A
ENST00000610817.4:c.6798G>A	ENSP00000480593.1:p.Arg2266=
NM_001110556.1:c.7794G>A	NP_001104026.1:p.Arg2598=
NM_001456.3:c.7770G>A	NP_001447.2:p.Arg2590=
XM_011531127.1:c.7698G>A	XP_011529429.1:p.Arg2566=
XM_011531128.1:c.7674G>A	XP_011529430.1:p.Arg2558=
XM_011531129.1:c.7620G>A	XP_011529431.1:p.Arg2540=
XM_011531130.1:c.7596G>A	XP_011529432.1:p.Arg2532=
XM_011531131.1:c.7593G>A	XP_011529433.1:p.Arg2531=
NM_001110556.2:c.7794G>A MANE Select	NP_001104026.1:p.Arg2598=
NM_001456.4:c.7770G>A	NP_001447.2:p.Arg2590=