Canonical Allele Identifier: CA337274985

Gene: FLNA

Linked Data

• ClinVar Variation Id: 465010
• ClinVar RCV Id: RCV002231782 ; RCV003332193 ; RCV000656208
• dbSNP Id: rs968230475
• gnomAD v2: X-153581251-C-G
• gnomAD v3: X-154352883-C-G
• gnomAD v4: X-154352883-C-G
• MyVariant Identifiers: chrX:g.153581251C>G (hg19) ; chrX:g.154352883C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352883C>G , CM000685.2:g.154352883C>G	GRCh38
NC_000023.10:g.153581251C>G , CM000685.1:g.153581251C>G	GRCh37
NC_000023.9:g.153234445C>G	NCBI36
NG_011506.1:g.26756G>C
NG_011506.2:g.26756G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6244G>C	ENSP00000353467.4:p.Val2082Leu
ENST00000369850.10:c.6268G>C MANE Select	ENSP00000358866.3:p.Val2090Leu
ENST00000369856.8:c.6187G>C	ENSP00000358872.4:p.Val2063Leu
ENST00000422373.6:c.3161-208G>C	ENSP00000416926.2:n.3161-208G>C
ENST00000610817.5:c.6325G>C	ENSP00000480593.2:n.6325G>C
ENST00000673639.2:c.280-4193G>C
ENST00000676696.1:c.6547G>C	ENSP00000503392.1:n.6547G>C
ENST00000678304.1:n.1447G>C
ENST00000344736.8:c.6148G>C	ENSP00000358863.3:p.Val2050Leu
ENST00000360319.8:c.6244G>C	ENSP00000353467.4:p.Val2082Leu
ENST00000369850.7:c.6268G>C	ENSP00000358866.3:p.Val2090Leu
ENST00000369856.7:c.6187G>C	ENSP00000358872.4:p.Val2063Leu
ENST00000415241.1:c.470G>C
ENST00000420627.5:c.6224G>C	ENSP00000408921.1:n.6224G>C
ENST00000422373.5:c.6244G>C	ENSP00000416926.1:p.Val2082Leu
ENST00000444578.1:c.211G>C	ENSP00000397824.1:p.Val71Leu
ENST00000466325.1:n.483G>C
ENST00000490936.5:n.2257G>C
ENST00000498411.1:n.1G>C
ENST00000610817.4:c.5844+510G>C	ENSP00000480593.1:n.5844+510G>C
NM_001110556.1:c.6268G>C	NP_001104026.1:p.Val2090Leu
NM_001456.3:c.6244G>C	NP_001447.2:p.Val2082Leu
XM_011531127.1:c.6172G>C	XP_011529429.1:p.Val2058Leu
XM_011531128.1:c.6148G>C	XP_011529430.1:p.Val2050Leu
XM_011531129.1:c.6094G>C	XP_011529431.1:p.Val2032Leu
XM_011531130.1:c.6070G>C	XP_011529432.1:p.Val2024Leu
XM_011531131.1:c.6067G>C	XP_011529433.1:p.Val2023Leu
NM_001110556.2:c.6268G>C MANE Select	NP_001104026.1:p.Val2090Leu
NM_001456.4:c.6244G>C	NP_001447.2:p.Val2082Leu