Canonical Allele Identifier: CA10560964

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1379539
• ClinVar RCV Id: RCV001892008
• dbSNP Id: rs782248197
• ExAC: X:153591162 A / C
• gnomAD v2: X-153591162-A-C
• gnomAD v4: X-154362794-A-C
• MyVariant Identifiers: chrX:g.153591162A>C (hg19) ; chrX:g.154362794A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362794A>C , CM000685.2:g.154362794A>C	GRCh38
NC_000023.10:g.153591162A>C , CM000685.1:g.153591162A>C	GRCh37
NC_000023.9:g.153244356A>C	NCBI36
NG_011506.1:g.16845T>G
NG_011506.2:g.16845T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2281-10T>G	ENSP00000353467.4:n.2281-10T>G
ENST00000369850.10:c.2281-10T>G MANE Select	ENSP00000358866.3:n.2281-10T>G
ENST00000369856.8:c.2200-10T>G	ENSP00000358872.4:n.2200-10T>G
ENST00000422373.6:c.2281-10T>G	ENSP00000416926.2:n.2281-10T>G
ENST00000610817.5:c.2338-10T>G	ENSP00000480593.2:n.2338-10T>G
ENST00000673639.2:c.279+2642T>G
ENST00000676696.1:c.2560-10T>G	ENSP00000503392.1:n.2560-10T>G
ENST00000344736.8:c.2281-10T>G	ENSP00000358863.3:n.2281-10T>G
ENST00000360319.8:c.2281-10T>G	ENSP00000353467.4:n.2281-10T>G
ENST00000369850.7:c.2281-10T>G	ENSP00000358866.3:n.2281-10T>G
ENST00000369856.7:c.2200-10T>G	ENSP00000358872.4:n.2200-10T>G
ENST00000420627.5:c.2237-10T>G	ENSP00000408921.1:n.2237-10T>G
ENST00000422373.5:c.2281-10T>G	ENSP00000416926.1:n.2281-10T>G
ENST00000610817.4:c.2200-10T>G	ENSP00000480593.1:n.2200-10T>G
NM_001110556.1:c.2281-10T>G	NP_001104026.1:n.2281-10T>G
NM_001456.3:c.2281-10T>G	NP_001447.2:n.2281-10T>G
XM_011531127.1:c.2281-10T>G	XP_011529429.1:n.2281-10T>G
XM_011531128.1:c.2281-10T>G	XP_011529430.1:n.2281-10T>G
XM_011531129.1:c.2281-10T>G	XP_011529431.1:n.2281-10T>G
XM_011531130.1:c.2281-10T>G	XP_011529432.1:n.2281-10T>G
XM_011531131.1:c.2080-10T>G	XP_011529433.1:n.2080-10T>G
NM_001110556.2:c.2281-10T>G MANE Select	NP_001104026.1:n.2281-10T>G
NM_001456.4:c.2281-10T>G	NP_001447.2:n.2281-10T>G