Canonical Allele Identifier: CA246036

Gene: FLNA

Linked Data

• ClinVar Variation Id: 197727
• ClinVar RCV Id: RCV000178845 ; RCV001312936
• dbSNP Id: rs797044753
• MyVariant Identifiers: chrX:g.153595900C>T (hg19) ; chrX:g.154367532C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154367532C>T , CM000685.2:g.154367532C>T	GRCh38
NC_000023.10:g.153595900C>T , CM000685.1:g.153595900C>T	GRCh37
NC_000023.9:g.153249094C>T	NCBI36
NG_011506.1:g.12107G>A
NG_011506.2:g.12107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.733G>A	ENSP00000353467.4:p.Glu245Lys
ENST00000369850.10:c.733G>A MANE Select	ENSP00000358866.3:p.Glu245Lys
ENST00000369856.8:c.652G>A	ENSP00000358872.4:p.Glu218Lys
ENST00000422373.6:c.733G>A	ENSP00000416926.2:p.Glu245Lys
ENST00000610817.5:c.733G>A	ENSP00000480593.2:p.Glu245Lys
ENST00000676696.1:c.733G>A	ENSP00000503392.1:p.Glu245Lys
ENST00000344736.8:c.733G>A	ENSP00000358863.3:p.Glu245Lys
ENST00000360319.8:c.733G>A	ENSP00000353467.4:p.Glu245Lys
ENST00000369850.7:c.733G>A	ENSP00000358866.3:p.Glu245Lys
ENST00000369856.7:c.652G>A	ENSP00000358872.4:p.Glu218Lys
ENST00000420627.5:c.691G>A	ENSP00000408921.1:p.Glu231Lys
ENST00000422373.5:c.733G>A	ENSP00000416926.1:p.Glu245Lys
ENST00000610817.4:c.652G>A	ENSP00000480593.1:p.Glu218Lys
NM_001110556.1:c.733G>A	NP_001104026.1:p.Glu245Lys
NM_001456.3:c.733G>A	NP_001447.2:p.Glu245Lys
XM_011531127.1:c.733G>A	XP_011529429.1:p.Glu245Lys
XM_011531128.1:c.733G>A	XP_011529430.1:p.Glu245Lys
XM_011531129.1:c.733G>A	XP_011529431.1:p.Glu245Lys
XM_011531130.1:c.733G>A	XP_011529432.1:p.Glu245Lys
XM_011531131.1:c.733G>A	XP_011529433.1:p.Glu245Lys
NM_001110556.2:c.733G>A MANE Select	NP_001104026.1:p.Glu245Lys
NM_001456.4:c.733G>A	NP_001447.2:p.Glu245Lys