Canonical Allele Identifier: CA519709643

Gene: FLNA

Linked Data

• ClinVar Variation Id: 488067
• ClinVar RCV Id: RCV000577926 ; RCV002529037
• dbSNP Id: rs1557179325
• COSMIC: COSM3559728 ; COSM3559729
• MyVariant Identifiers: chrX:g.153594930C>T (hg19) ; chrX:g.154366562C>T (hg38)
• PubMed: PMID:29024177

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154366562C>T , CM000685.2:g.154366562C>T	GRCh38
NC_000023.10:g.153594930C>T , CM000685.1:g.153594930C>T	GRCh37
NC_000023.9:g.153248124C>T	NCBI36
NG_011506.1:g.13077G>A
NG_011506.2:g.13077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.1065G>A	ENSP00000353467.4:p.Lys355=
ENST00000369850.10:c.1065G>A MANE Select	ENSP00000358866.3:p.Lys355=
ENST00000369856.8:c.984G>A	ENSP00000358872.4:p.Lys328=
ENST00000422373.6:c.1065G>A	ENSP00000416926.2:p.Lys355=
ENST00000610817.5:c.1065G>A	ENSP00000480593.2:p.Lys355=
ENST00000676696.1:c.1065G>A	ENSP00000503392.1:p.Lys355=
ENST00000344736.8:c.1065G>A	ENSP00000358863.3:p.Lys355=
ENST00000360319.8:c.1065G>A	ENSP00000353467.4:p.Lys355=
ENST00000369850.7:c.1065G>A	ENSP00000358866.3:p.Lys355=
ENST00000369856.7:c.984G>A	ENSP00000358872.4:p.Lys328=
ENST00000420627.5:c.1023G>A	ENSP00000408921.1:p.Lys341=
ENST00000422373.5:c.1065G>A	ENSP00000416926.1:p.Lys355=
ENST00000610817.4:c.984G>A	ENSP00000480593.1:p.Lys328=
NM_001110556.1:c.1065G>A	NP_001104026.1:p.Lys355=
NM_001456.3:c.1065G>A	NP_001447.2:p.Lys355=
XM_011531127.1:c.1065G>A	XP_011529429.1:p.Lys355=
XM_011531128.1:c.1065G>A	XP_011529430.1:p.Lys355=
XM_011531129.1:c.1065G>A	XP_011529431.1:p.Lys355=
XM_011531130.1:c.1065G>A	XP_011529432.1:p.Lys355=
XM_011531131.1:c.1065G>A	XP_011529433.1:p.Lys355=
NM_001110556.2:c.1065G>A MANE Select	NP_001104026.1:p.Lys355=
NM_001456.4:c.1065G>A	NP_001447.2:p.Lys355=