Canonical Allele Identifier: CA415255861

Gene: FLNA

Linked Data

• ClinVar Variation Id: 579460
• ClinVar RCV Id: RCV002232937
• dbSNP Id: rs868975259
• gnomAD v4: X-154371212-C-A
• MyVariant Identifiers: chrX:g.153599580C>A (hg19) ; chrX:g.154371212C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154371212C>A , CM000685.2:g.154371212C>A	GRCh38
NC_000023.10:g.153599580C>A , CM000685.1:g.153599580C>A	GRCh37
NC_000023.9:g.153252774C>A	NCBI36
NG_008677.1:g.1785C>A , LRG_745:g.1785C>A
NG_011506.1:g.8427G>T
NG_011506.2:g.8427G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.34G>T	ENSP00000353467.4:p.Ala12Ser
ENST00000369850.10:c.34G>T MANE Select	ENSP00000358866.3:p.Ala12Ser
ENST00000369856.8:c.-48G>T	ENSP00000358872.4:n.-48G>T
ENST00000422373.6:c.34G>T	ENSP00000416926.2:p.Ala12Ser
ENST00000610817.5:c.34G>T	ENSP00000480593.2:p.Ala12Ser
ENST00000676696.1:c.34G>T	ENSP00000503392.1:p.Ala12Ser
ENST00000344736.8:c.34G>T	ENSP00000358863.3:p.Ala12Ser
ENST00000360319.8:c.34G>T	ENSP00000353467.4:p.Ala12Ser
ENST00000369850.7:c.34G>T	ENSP00000358866.3:p.Ala12Ser
ENST00000369856.7:c.-48G>T	ENSP00000358872.4:n.-48G>T
ENST00000422373.5:c.34G>T	ENSP00000416926.1:p.Ala12Ser
ENST00000610817.4:c.-48G>T	ENSP00000480593.1:n.-48G>T
NM_001110556.1:c.34G>T	NP_001104026.1:p.Ala12Ser
NM_001456.3:c.34G>T	NP_001447.2:p.Ala12Ser
XM_011531127.1:c.34G>T	XP_011529429.1:p.Ala12Ser
XM_011531128.1:c.34G>T	XP_011529430.1:p.Ala12Ser
XM_011531129.1:c.34G>T	XP_011529431.1:p.Ala12Ser
XM_011531130.1:c.34G>T	XP_011529432.1:p.Ala12Ser
XM_011531131.1:c.34G>T	XP_011529433.1:p.Ala12Ser
NM_001110556.2:c.34G>T MANE Select	NP_001104026.1:p.Ala12Ser
NM_001456.4:c.34G>T	NP_001447.2:p.Ala12Ser