Canonical Allele Identifier: CA10560145

Gene: FLNA

Linked Data

• dbSNP Id: rs782415960
• ExAC: X:153581364 C / T
• gnomAD v2: X-153581364-C-T
• gnomAD v4: X-154352996-C-T
• MyVariant Identifiers: chrX:g.153581364C>T (hg19) ; chrX:g.154352996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352996C>T , CM000685.2:g.154352996C>T	GRCh38
NC_000023.10:g.153581364C>T , CM000685.1:g.153581364C>T	GRCh37
NC_000023.9:g.153234558C>T	NCBI36
NG_011506.1:g.26643G>A
NG_011506.2:g.26643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.6202+5G>A	ENSP00000353467.4:n.6202+5G>A
ENST00000369850.10:c.6226+5G>A MANE Select	ENSP00000358866.3:n.6226+5G>A
ENST00000369856.8:c.6145+5G>A	ENSP00000358872.4:n.6145+5G>A
ENST00000422373.6:c.3161-321G>A	ENSP00000416926.2:n.3161-321G>A
ENST00000610817.5:c.6283+5G>A	ENSP00000480593.2:n.6283+5G>A
ENST00000673639.2:c.280-4306G>A
ENST00000676696.1:c.6505+5G>A	ENSP00000503392.1:n.6505+5G>A
ENST00000678304.1:n.1405+5G>A
ENST00000344736.8:c.6106+5G>A	ENSP00000358863.3:n.6106+5G>A
ENST00000360319.8:c.6202+5G>A	ENSP00000353467.4:n.6202+5G>A
ENST00000369850.7:c.6226+5G>A	ENSP00000358866.3:n.6226+5G>A
ENST00000369856.7:c.6145+5G>A	ENSP00000358872.4:n.6145+5G>A
ENST00000415241.1:c.428+5G>A
ENST00000420627.5:c.6182+5G>A	ENSP00000408921.1:n.6182+5G>A
ENST00000422373.5:c.6202+5G>A	ENSP00000416926.1:n.6202+5G>A
ENST00000444578.1:c.169+5G>A	ENSP00000397824.1:n.169+5G>A
ENST00000466325.1:n.370G>A
ENST00000490936.5:n.2215+5G>A
ENST00000610817.4:c.5844+397G>A	ENSP00000480593.1:n.5844+397G>A
NM_001110556.1:c.6226+5G>A	NP_001104026.1:n.6226+5G>A
NM_001456.3:c.6202+5G>A	NP_001447.2:n.6202+5G>A
XM_011531127.1:c.6130+5G>A	XP_011529429.1:n.6130+5G>A
XM_011531128.1:c.6106+5G>A	XP_011529430.1:n.6106+5G>A
XM_011531129.1:c.6052+5G>A	XP_011529431.1:n.6052+5G>A
XM_011531130.1:c.6028+5G>A	XP_011529432.1:n.6028+5G>A
XM_011531131.1:c.6025+5G>A	XP_011529433.1:n.6025+5G>A
NM_001110556.2:c.6226+5G>A MANE Select	NP_001104026.1:n.6226+5G>A
NM_001456.4:c.6202+5G>A	NP_001447.2:n.6202+5G>A