Canonical Allele Identifier: CA256062

Gene: FLNA

Linked Data

• ClinVar Variation Id: 11770
• ClinVar RCV Id: RCV000012536 ; RCV000020423 ; RCV001563663 ; RCV001348560 ; RCV001753413
• dbSNP Id: rs80338841
• gnomAD v4: X-154364625-G-A
• COSMIC: COSM4108089 ; COSM4108090
• MyVariant Identifiers: chrX:g.153592993G>A (hg19) ; chrX:g.154364625G>A (hg38)
• PubMed: PMID:16299064 ; PMID:16875750 ; PMID:17632775 ; PMID:20301567

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154364625G>A , CM000685.2:g.154364625G>A	GRCh38
NC_000023.10:g.153592993G>A , CM000685.1:g.153592993G>A	GRCh37
NC_000023.9:g.153246187G>A	NCBI36
NG_011506.1:g.15014C>T
NG_011506.2:g.15014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.1923C>T	ENSP00000353467.4:p.Gly641=
ENST00000369850.10:c.1923C>T MANE Select	ENSP00000358866.3:p.Gly641=
ENST00000369856.8:c.1842C>T	ENSP00000358872.4:p.Gly614=
ENST00000422373.6:c.1923C>T	ENSP00000416926.2:p.Gly641=
ENST00000610817.5:c.1980C>T	ENSP00000480593.2:n.1980C>T
ENST00000673639.2:c.279+811C>T
ENST00000676696.1:c.2202C>T	ENSP00000503392.1:n.2202C>T
ENST00000344736.8:c.1923C>T	ENSP00000358863.3:p.Gly641=
ENST00000360319.8:c.1923C>T	ENSP00000353467.4:p.Gly641=
ENST00000369850.7:c.1923C>T	ENSP00000358866.3:p.Gly641=
ENST00000369856.7:c.1842C>T	ENSP00000358872.4:p.Gly614=
ENST00000420627.5:c.1879C>T	ENSP00000408921.1:n.1879C>T
ENST00000422373.5:c.1923C>T	ENSP00000416926.1:p.Gly641=
ENST00000610817.4:c.1842C>T	ENSP00000480593.1:p.Gly614=
NM_001110556.1:c.1923C>T	NP_001104026.1:p.Gly641=
NM_001456.3:c.1923C>T	NP_001447.2:p.Gly641=
XM_011531127.1:c.1923C>T	XP_011529429.1:p.Gly641=
XM_011531128.1:c.1923C>T	XP_011529430.1:p.Gly641=
XM_011531129.1:c.1923C>T	XP_011529431.1:p.Gly641=
XM_011531130.1:c.1923C>T	XP_011529432.1:p.Gly641=
XM_011531131.1:c.1722C>T	XP_011529433.1:p.Gly574=
NM_001110556.2:c.1923C>T MANE Select	NP_001104026.1:p.Gly641=
NM_001456.4:c.1923C>T	NP_001447.2:p.Gly641=