Canonical Allele Identifier: CA415195734

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1220289
• ClinVar RCV Id: RCV001592547 ; RCV001866235
• dbSNP Id: rs2148104996
• gnomAD v4: X-154353078-A-G
• MyVariant Identifiers: chrX:g.153581446A>G (hg19) ; chrX:g.154353078A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353078A>G , CM000685.2:g.154353078A>G	GRCh38
NC_000023.10:g.153581446A>G , CM000685.1:g.153581446A>G	GRCh37
NC_000023.9:g.153234640A>G	NCBI36
NG_011506.1:g.26561T>C
NG_011506.2:g.26561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6125T>C	ENSP00000353467.4:p.Val2042Ala
ENST00000369850.10:c.6149T>C MANE Select	ENSP00000358866.3:p.Val2050Ala
ENST00000369856.8:c.6068T>C	ENSP00000358872.4:p.Val2023Ala
ENST00000422373.6:c.3161-403T>C	ENSP00000416926.2:n.3161-403T>C
ENST00000610817.5:c.6206T>C	ENSP00000480593.2:n.6206T>C
ENST00000673639.2:c.280-4388T>C
ENST00000676696.1:c.6428T>C	ENSP00000503392.1:n.6428T>C
ENST00000678304.1:n.1328T>C
ENST00000344736.8:c.6029T>C	ENSP00000358863.3:p.Val2010Ala
ENST00000360319.8:c.6125T>C	ENSP00000353467.4:p.Val2042Ala
ENST00000369850.7:c.6149T>C	ENSP00000358866.3:p.Val2050Ala
ENST00000369856.7:c.6068T>C	ENSP00000358872.4:p.Val2023Ala
ENST00000415241.1:c.351T>C
ENST00000420627.5:c.6105T>C	ENSP00000408921.1:n.6105T>C
ENST00000422373.5:c.6125T>C	ENSP00000416926.1:p.Val2042Ala
ENST00000444578.1:c.92T>C	ENSP00000397824.1:p.Val31Ala
ENST00000466325.1:n.288T>C
ENST00000490936.5:n.2138T>C
ENST00000610817.4:c.5844+315T>C	ENSP00000480593.1:n.5844+315T>C
NM_001110556.1:c.6149T>C	NP_001104026.1:p.Val2050Ala
NM_001456.3:c.6125T>C	NP_001447.2:p.Val2042Ala
XM_011531127.1:c.6053T>C	XP_011529429.1:p.Val2018Ala
XM_011531128.1:c.6029T>C	XP_011529430.1:p.Val2010Ala
XM_011531129.1:c.5975T>C	XP_011529431.1:p.Val1992Ala
XM_011531130.1:c.5951T>C	XP_011529432.1:p.Val1984Ala
XM_011531131.1:c.5948T>C	XP_011529433.1:p.Val1983Ala
NM_001110556.2:c.6149T>C MANE Select	NP_001104026.1:p.Val2050Ala
NM_001456.4:c.6125T>C	NP_001447.2:p.Val2042Ala