Canonical Allele Identifier: CA415196706

Gene: FLNA

Linked Data

• gnomAD v4: X-154353196-A-G
• MyVariant Identifiers: chrX:g.153581564A>G (hg19) ; chrX:g.154353196A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353196A>G , CM000685.2:g.154353196A>G	GRCh38
NC_000023.10:g.153581564A>G , CM000685.1:g.153581564A>G	GRCh37
NC_000023.9:g.153234758A>G	NCBI36
NG_011506.1:g.26443T>C
NG_011506.2:g.26443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6007T>C	ENSP00000353467.4:p.Phe2003Leu
ENST00000369850.10:c.6031T>C MANE Select	ENSP00000358866.3:p.Phe2011Leu
ENST00000369856.8:c.5950T>C	ENSP00000358872.4:p.Phe1984Leu
ENST00000422373.6:c.3161-521T>C	ENSP00000416926.2:n.3161-521T>C
ENST00000610817.5:c.6088T>C	ENSP00000480593.2:n.6088T>C
ENST00000673639.2:c.280-4506T>C
ENST00000676696.1:c.6310T>C	ENSP00000503392.1:n.6310T>C
ENST00000678304.1:n.1210T>C
ENST00000344736.8:c.5911T>C	ENSP00000358863.3:p.Phe1971Leu
ENST00000360319.8:c.6007T>C	ENSP00000353467.4:p.Phe2003Leu
ENST00000369850.7:c.6031T>C	ENSP00000358866.3:p.Phe2011Leu
ENST00000369856.7:c.5950T>C	ENSP00000358872.4:p.Phe1984Leu
ENST00000415241.1:c.233T>C
ENST00000420627.5:c.5987T>C	ENSP00000408921.1:n.5987T>C
ENST00000422373.5:c.6007T>C	ENSP00000416926.1:p.Phe2003Leu
ENST00000466325.1:n.170T>C
ENST00000490936.5:n.2020T>C
ENST00000610817.4:c.5844+197T>C	ENSP00000480593.1:n.5844+197T>C
NM_001110556.1:c.6031T>C	NP_001104026.1:p.Phe2011Leu
NM_001456.3:c.6007T>C	NP_001447.2:p.Phe2003Leu
XM_011531127.1:c.5935T>C	XP_011529429.1:p.Phe1979Leu
XM_011531128.1:c.5911T>C	XP_011529430.1:p.Phe1971Leu
XM_011531129.1:c.5857T>C	XP_011529431.1:p.Phe1953Leu
XM_011531130.1:c.5833T>C	XP_011529432.1:p.Phe1945Leu
XM_011531131.1:c.5830T>C	XP_011529433.1:p.Phe1944Leu
NM_001110556.2:c.6031T>C MANE Select	NP_001104026.1:p.Phe2011Leu
NM_001456.4:c.6007T>C	NP_001447.2:p.Phe2003Leu