Canonical Allele Identifier: CA10560881

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1116067
• ClinVar RCV Id: RCV001444292
• dbSNP Id: rs781901497
• ExAC: X:153590679 G / T
• gnomAD v2: X-153590679-G-T
• gnomAD v3: X-154362311-G-T
• gnomAD v4: X-154362311-G-T
• MyVariant Identifiers: chrX:g.153590679G>T (hg19) ; chrX:g.154362311G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362311G>T , CM000685.2:g.154362311G>T	GRCh38
NC_000023.10:g.153590679G>T , CM000685.1:g.153590679G>T	GRCh37
NC_000023.9:g.153243873G>T	NCBI36
NG_011506.1:g.17328C>A
NG_011506.2:g.17328C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2587C>A	ENSP00000353467.4:p.Arg863=
ENST00000369850.10:c.2587C>A MANE Select	ENSP00000358866.3:p.Arg863=
ENST00000369856.8:c.2506C>A	ENSP00000358872.4:p.Arg836=
ENST00000422373.6:c.2587C>A	ENSP00000416926.2:p.Arg863=
ENST00000610817.5:c.2644C>A	ENSP00000480593.2:n.2644C>A
ENST00000673639.2:c.279+3125C>A
ENST00000676696.1:c.2866C>A	ENSP00000503392.1:n.2866C>A
ENST00000344736.8:c.2587C>A	ENSP00000358863.3:p.Arg863=
ENST00000360319.8:c.2587C>A	ENSP00000353467.4:p.Arg863=
ENST00000369850.7:c.2587C>A	ENSP00000358866.3:p.Arg863=
ENST00000369856.7:c.2506C>A	ENSP00000358872.4:p.Arg836=
ENST00000420627.5:c.2543C>A	ENSP00000408921.1:n.2543C>A
ENST00000422373.5:c.2587C>A	ENSP00000416926.1:p.Arg863=
ENST00000610817.4:c.2506C>A	ENSP00000480593.1:p.Arg836=
NM_001110556.1:c.2587C>A	NP_001104026.1:p.Arg863=
NM_001456.3:c.2587C>A	NP_001447.2:p.Arg863=
XM_011531127.1:c.2587C>A	XP_011529429.1:p.Arg863=
XM_011531128.1:c.2587C>A	XP_011529430.1:p.Arg863=
XM_011531129.1:c.2587C>A	XP_011529431.1:p.Arg863=
XM_011531130.1:c.2587C>A	XP_011529432.1:p.Arg863=
XM_011531131.1:c.2386C>A	XP_011529433.1:p.Arg796=
NM_001110556.2:c.2587C>A MANE Select	NP_001104026.1:p.Arg863=
NM_001456.4:c.2587C>A	NP_001447.2:p.Arg863=