Canonical Allele Identifier: CA10560238

Gene: FLNA

Linked Data

• ClinVar Variation Id: 405442
• ClinVar RCV Id: RCV000502032 ; RCV000786134 ; RCV002230759
• dbSNP Id: rs782549964
• ExAC: X:153582072 C / T
• gnomAD v2: X-153582072-C-T
• gnomAD v3: X-154353704-C-T
• gnomAD v4: X-154353704-C-T
• MyVariant Identifiers: chrX:g.153582072C>T (hg19) ; chrX:g.154353704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154353704C>T , CM000685.2:g.154353704C>T	GRCh38
NC_000023.10:g.153582072C>T , CM000685.1:g.153582072C>T	GRCh37
NC_000023.9:g.153235266C>T	NCBI36
NG_011506.1:g.25935G>A
NG_011506.2:g.25935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.5686G>A	ENSP00000353467.4:p.Gly1896Ser
ENST00000369850.10:c.5710G>A MANE Select	ENSP00000358866.3:p.Gly1904Ser
ENST00000369856.8:c.5629G>A	ENSP00000358872.4:p.Gly1877Ser
ENST00000422373.6:c.3161-1029G>A	ENSP00000416926.2:n.3161-1029G>A
ENST00000610817.5:c.5767G>A	ENSP00000480593.2:n.5767G>A
ENST00000673639.2:c.280-5014G>A
ENST00000676696.1:c.5989G>A	ENSP00000503392.1:n.5989G>A
ENST00000678304.1:n.889G>A
ENST00000344736.8:c.5590G>A	ENSP00000358863.3:p.Gly1864Ser
ENST00000360319.8:c.5686G>A	ENSP00000353467.4:p.Gly1896Ser
ENST00000369850.7:c.5710G>A	ENSP00000358866.3:p.Gly1904Ser
ENST00000369856.7:c.5629G>A	ENSP00000358872.4:p.Gly1877Ser
ENST00000420627.5:c.5666G>A	ENSP00000408921.1:n.5666G>A
ENST00000422373.5:c.5686G>A	ENSP00000416926.1:p.Gly1896Ser
ENST00000438732.2:c.534+211G>A
ENST00000490936.5:n.1699G>A
ENST00000610817.4:c.5629G>A	ENSP00000480593.1:p.Gly1877Ser
NM_001110556.1:c.5710G>A	NP_001104026.1:p.Gly1904Ser
NM_001456.3:c.5686G>A	NP_001447.2:p.Gly1896Ser
XM_011531127.1:c.5614G>A	XP_011529429.1:p.Gly1872Ser
XM_011531128.1:c.5590G>A	XP_011529430.1:p.Gly1864Ser
XM_011531129.1:c.5686+211G>A	XP_011529431.1:n.5686+211G>A
XM_011531130.1:c.5662+211G>A	XP_011529432.1:n.5662+211G>A
XM_011531131.1:c.5509G>A	XP_011529433.1:p.Gly1837Ser
NM_001110556.2:c.5710G>A MANE Select	NP_001104026.1:p.Gly1904Ser
NM_001456.4:c.5686G>A	NP_001447.2:p.Gly1896Ser