Canonical Allele Identifier: CA245194

Gene: FLNA

Linked Data

• ClinVar Variation Id: 197196
• ClinVar RCV Id: RCV000178164 ; RCV000724477 ; RCV001481245
• dbSNP Id: rs782670288
• ExAC: X:153596113 C / T
• gnomAD v2: X-153596113-C-T
• gnomAD v4: X-154367745-C-T
• MyVariant Identifiers: chrX:g.153596113C>T (hg19) ; chrX:g.154367745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154367745C>T , CM000685.2:g.154367745C>T	GRCh38
NC_000023.10:g.153596113C>T , CM000685.1:g.153596113C>T	GRCh37
NC_000023.9:g.153249307C>T	NCBI36
NG_011506.1:g.11894G>A
NG_011506.2:g.11894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.623-7G>A	ENSP00000353467.4:n.623-7G>A
ENST00000369850.10:c.623-7G>A MANE Select	ENSP00000358866.3:n.623-7G>A
ENST00000369856.8:c.542-7G>A	ENSP00000358872.4:n.542-7G>A
ENST00000422373.6:c.623-7G>A	ENSP00000416926.2:n.623-7G>A
ENST00000610817.5:c.623-7G>A	ENSP00000480593.2:n.623-7G>A
ENST00000676696.1:c.623-7G>A	ENSP00000503392.1:n.623-7G>A
ENST00000344736.8:c.623-7G>A	ENSP00000358863.3:n.623-7G>A
ENST00000360319.8:c.623-7G>A	ENSP00000353467.4:n.623-7G>A
ENST00000369850.7:c.623-7G>A	ENSP00000358866.3:n.623-7G>A
ENST00000369856.7:c.542-7G>A	ENSP00000358872.4:n.542-7G>A
ENST00000420627.5:c.581-7G>A	ENSP00000408921.1:n.581-7G>A
ENST00000422373.5:c.623-7G>A	ENSP00000416926.1:n.623-7G>A
ENST00000610817.4:c.542-7G>A	ENSP00000480593.1:n.542-7G>A
NM_001110556.1:c.623-7G>A	NP_001104026.1:n.623-7G>A
NM_001456.3:c.623-7G>A	NP_001447.2:n.623-7G>A
XM_011531127.1:c.623-7G>A	XP_011529429.1:n.623-7G>A
XM_011531128.1:c.623-7G>A	XP_011529430.1:n.623-7G>A
XM_011531129.1:c.623-7G>A	XP_011529431.1:n.623-7G>A
XM_011531130.1:c.623-7G>A	XP_011529432.1:n.623-7G>A
XM_011531131.1:c.623-7G>A	XP_011529433.1:n.623-7G>A
NM_001110556.2:c.623-7G>A MANE Select	NP_001104026.1:n.623-7G>A
NM_001456.4:c.623-7G>A	NP_001447.2:n.623-7G>A