Canonical Allele Identifier: CA16608802

Gene: FLNA

Linked Data

• ClinVar Variation Id: 391832
• ClinVar RCV Id: RCV000557838 ; RCV000992000 ; RCV002313145
• dbSNP Id: rs199652065
• gnomAD v2: X-153586940-G-A
• gnomAD v3: X-154358572-G-A
• gnomAD v4: X-154358572-G-A
• MyVariant Identifiers: chrX:g.153586940G>A (hg19) ; chrX:g.154358572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154358572G>A , CM000685.2:g.154358572G>A	GRCh38
NC_000023.10:g.153586940G>A , CM000685.1:g.153586940G>A	GRCh37
NC_000023.9:g.153240134G>A	NCBI36
NG_011506.1:g.21067C>T
NG_011506.2:g.21067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4475-4C>T	ENSP00000353467.4:n.4475-4C>T
ENST00000369850.10:c.4475-4C>T MANE Select	ENSP00000358866.3:n.4475-4C>T
ENST00000369856.8:c.4394-4C>T	ENSP00000358872.4:n.4394-4C>T
ENST00000422373.6:c.3160+2783C>T	ENSP00000416926.2:n.3160+2783C>T
ENST00000610817.5:c.4532-4C>T	ENSP00000480593.2:n.4532-4C>T
ENST00000673639.2:c.279+6864C>T
ENST00000676696.1:c.4754-4C>T	ENSP00000503392.1:n.4754-4C>T
ENST00000678304.1:n.148+517C>T
ENST00000344736.8:c.4475-4C>T	ENSP00000358863.3:n.4475-4C>T
ENST00000360319.8:c.4475-4C>T	ENSP00000353467.4:n.4475-4C>T
ENST00000369850.7:c.4475-4C>T	ENSP00000358866.3:n.4475-4C>T
ENST00000369856.7:c.4394-4C>T	ENSP00000358872.4:n.4394-4C>T
ENST00000420627.5:c.4431-4C>T	ENSP00000408921.1:n.4431-4C>T
ENST00000422373.5:c.4475-4C>T	ENSP00000416926.1:n.4475-4C>T
ENST00000466319.1:n.93C>T
ENST00000490936.5:n.488-4C>T
ENST00000610817.4:c.4394-4C>T	ENSP00000480593.1:n.4394-4C>T
NM_001110556.1:c.4475-4C>T	NP_001104026.1:n.4475-4C>T
NM_001456.3:c.4475-4C>T	NP_001447.2:n.4475-4C>T
XM_011531127.1:c.4475-4C>T	XP_011529429.1:n.4475-4C>T
XM_011531128.1:c.4475-4C>T	XP_011529430.1:n.4475-4C>T
XM_011531129.1:c.4475-4C>T	XP_011529431.1:n.4475-4C>T
XM_011531130.1:c.4475-4C>T	XP_011529432.1:n.4475-4C>T
XM_011531131.1:c.4274-4C>T	XP_011529433.1:n.4274-4C>T
NM_001110556.2:c.4475-4C>T MANE Select	NP_001104026.1:n.4475-4C>T
NM_001456.4:c.4475-4C>T	NP_001447.2:n.4475-4C>T