Canonical Allele Identifier: CA873345228

Gene: FLNA

Linked Data

• ClinVar Variation Id: 2057127
• ClinVar RCV Id: RCV002941911
• dbSNP Id: rs1217989888
• gnomAD v3: X-154367830-G-A
• gnomAD v4: X-154367830-G-A
• MyVariant Identifiers: chrX:g.154367830G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154367830G>A , CM000685.2:g.154367830G>A	GRCh38
NC_000023.10:g.153596198G>A , CM000685.1:g.153596198G>A	GRCh37
NC_000023.9:g.153249392G>A	NCBI36
NG_011506.1:g.11809C>T
NG_011506.2:g.11809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.622+12C>T	ENSP00000353467.4:n.622+12C>T
ENST00000369850.10:c.622+12C>T MANE Select	ENSP00000358866.3:n.622+12C>T
ENST00000369856.8:c.541+12C>T	ENSP00000358872.4:n.541+12C>T
ENST00000422373.6:c.622+12C>T	ENSP00000416926.2:n.622+12C>T
ENST00000610817.5:c.622+12C>T	ENSP00000480593.2:n.622+12C>T
ENST00000676696.1:c.622+12C>T	ENSP00000503392.1:n.622+12C>T
ENST00000344736.8:c.622+12C>T	ENSP00000358863.3:n.622+12C>T
ENST00000360319.8:c.622+12C>T	ENSP00000353467.4:n.622+12C>T
ENST00000369850.7:c.622+12C>T	ENSP00000358866.3:n.622+12C>T
ENST00000369856.7:c.541+12C>T	ENSP00000358872.4:n.541+12C>T
ENST00000420627.5:c.580+12C>T	ENSP00000408921.1:n.580+12C>T
ENST00000422373.5:c.622+12C>T	ENSP00000416926.1:n.622+12C>T
ENST00000610817.4:c.541+12C>T	ENSP00000480593.1:n.541+12C>T
NM_001110556.1:c.622+12C>T	NP_001104026.1:n.622+12C>T
NM_001456.3:c.622+12C>T	NP_001447.2:n.622+12C>T
XM_011531127.1:c.622+12C>T	XP_011529429.1:n.622+12C>T
XM_011531128.1:c.622+12C>T	XP_011529430.1:n.622+12C>T
XM_011531129.1:c.622+12C>T	XP_011529431.1:n.622+12C>T
XM_011531130.1:c.622+12C>T	XP_011529432.1:n.622+12C>T
XM_011531131.1:c.622+12C>T	XP_011529433.1:n.622+12C>T
NM_001110556.2:c.622+12C>T MANE Select	NP_001104026.1:n.622+12C>T
NM_001456.4:c.622+12C>T	NP_001447.2:n.622+12C>T