Canonical Allele Identifier: CA415196430

Gene: FLNA

Linked Data

• dbSNP Id: rs1205762631
• gnomAD v3: X-154353162-T-C
• gnomAD v4: X-154353162-T-C
• MyVariant Identifiers: chrX:g.153581530T>C (hg19) ; chrX:g.154353162T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353162T>C , CM000685.2:g.154353162T>C	GRCh38
NC_000023.10:g.153581530T>C , CM000685.1:g.153581530T>C	GRCh37
NC_000023.9:g.153234724T>C	NCBI36
NG_011506.1:g.26477A>G
NG_011506.2:g.26477A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6041A>G	ENSP00000353467.4:p.His2014Arg
ENST00000369850.10:c.6065A>G MANE Select	ENSP00000358866.3:p.His2022Arg
ENST00000369856.8:c.5984A>G	ENSP00000358872.4:p.His1995Arg
ENST00000422373.6:c.3161-487A>G	ENSP00000416926.2:n.3161-487A>G
ENST00000610817.5:c.6122A>G	ENSP00000480593.2:n.6122A>G
ENST00000673639.2:c.280-4472A>G
ENST00000676696.1:c.6344A>G	ENSP00000503392.1:n.6344A>G
ENST00000678304.1:n.1244A>G
ENST00000344736.8:c.5945A>G	ENSP00000358863.3:p.His1982Arg
ENST00000360319.8:c.6041A>G	ENSP00000353467.4:p.His2014Arg
ENST00000369850.7:c.6065A>G	ENSP00000358866.3:p.His2022Arg
ENST00000369856.7:c.5984A>G	ENSP00000358872.4:p.His1995Arg
ENST00000415241.1:c.267A>G
ENST00000420627.5:c.6021A>G	ENSP00000408921.1:n.6021A>G
ENST00000422373.5:c.6041A>G	ENSP00000416926.1:p.His2014Arg
ENST00000444578.1:c.8A>G	ENSP00000397824.1:p.His3Arg
ENST00000466325.1:n.204A>G
ENST00000490936.5:n.2054A>G
ENST00000610817.4:c.5844+231A>G	ENSP00000480593.1:n.5844+231A>G
NM_001110556.1:c.6065A>G	NP_001104026.1:p.His2022Arg
NM_001456.3:c.6041A>G	NP_001447.2:p.His2014Arg
XM_011531127.1:c.5969A>G	XP_011529429.1:p.His1990Arg
XM_011531128.1:c.5945A>G	XP_011529430.1:p.His1982Arg
XM_011531129.1:c.5891A>G	XP_011529431.1:p.His1964Arg
XM_011531130.1:c.5867A>G	XP_011529432.1:p.His1956Arg
XM_011531131.1:c.5864A>G	XP_011529433.1:p.His1955Arg
NM_001110556.2:c.6065A>G MANE Select	NP_001104026.1:p.His2022Arg
NM_001456.4:c.6041A>G	NP_001447.2:p.His2014Arg