Canonical Allele Identifier: CA415219093

Gene: FLNA

Linked Data

• ClinVar Variation Id: 464989
• ClinVar RCV Id: RCV002231779
• dbSNP Id: rs1557177485
• MyVariant Identifiers: chrX:g.153587775C>A (hg19) ; chrX:g.154359407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154359407C>A , CM000685.2:g.154359407C>A	GRCh38
NC_000023.10:g.153587775C>A , CM000685.1:g.153587775C>A	GRCh37
NC_000023.9:g.153240969C>A	NCBI36
NG_011506.1:g.20232G>T
NG_011506.2:g.20232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4143-1G>T	ENSP00000353467.4:n.4143-1G>T
ENST00000369850.10:c.4143-1G>T MANE Select	ENSP00000358866.3:n.4143-1G>T
ENST00000369856.8:c.4062-1G>T	ENSP00000358872.4:n.4062-1G>T
ENST00000422373.6:c.3160+1948G>T	ENSP00000416926.2:n.3160+1948G>T
ENST00000610817.5:c.4200-1G>T	ENSP00000480593.2:n.4200-1G>T
ENST00000673639.2:c.279+6029G>T
ENST00000676696.1:c.4422-1G>T	ENSP00000503392.1:n.4422-1G>T
ENST00000344736.8:c.4143-1G>T	ENSP00000358863.3:n.4143-1G>T
ENST00000360319.8:c.4143-1G>T	ENSP00000353467.4:n.4143-1G>T
ENST00000369850.7:c.4143-1G>T	ENSP00000358866.3:n.4143-1G>T
ENST00000369856.7:c.4062-1G>T	ENSP00000358872.4:n.4062-1G>T
ENST00000420627.5:c.4099-1G>T	ENSP00000408921.1:n.4099-1G>T
ENST00000422373.5:c.4143-1G>T	ENSP00000416926.1:n.4143-1G>T
ENST00000490936.5:n.156-1G>T
ENST00000610817.4:c.4062-1G>T	ENSP00000480593.1:n.4062-1G>T
NM_001110556.1:c.4143-1G>T	NP_001104026.1:n.4143-1G>T
NM_001456.3:c.4143-1G>T	NP_001447.2:n.4143-1G>T
XM_011531127.1:c.4143-1G>T	XP_011529429.1:n.4143-1G>T
XM_011531128.1:c.4143-1G>T	XP_011529430.1:n.4143-1G>T
XM_011531129.1:c.4143-1G>T	XP_011529431.1:n.4143-1G>T
XM_011531130.1:c.4143-1G>T	XP_011529432.1:n.4143-1G>T
XM_011531131.1:c.3942-1G>T	XP_011529433.1:n.3942-1G>T
NM_001110556.2:c.4143-1G>T MANE Select	NP_001104026.1:n.4143-1G>T
NM_001456.4:c.4143-1G>T	NP_001447.2:n.4143-1G>T