Canonical Allele Identifier: CA415242661

Gene: FLNA

Linked Data

• dbSNP Id: rs1320726395
• gnomAD v2: X-153593282-C-G
• gnomAD v3: X-154364914-C-G
• gnomAD v4: X-154364914-C-G
• MyVariant Identifiers: chrX:g.153593282C>G (hg19) ; chrX:g.154364914C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154364914C>G , CM000685.2:g.154364914C>G	GRCh38
NC_000023.10:g.153593282C>G , CM000685.1:g.153593282C>G	GRCh37
NC_000023.9:g.153246476C>G	NCBI36
NG_011506.1:g.14725G>C
NG_011506.2:g.14725G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360319.9:c.1735G>C	ENSP00000353467.4:p.Val579Leu
ENST00000369850.10:c.1735G>C MANE Select	ENSP00000358866.3:p.Val579Leu
ENST00000369856.8:c.1654G>C	ENSP00000358872.4:p.Val552Leu
ENST00000422373.6:c.1735G>C	ENSP00000416926.2:p.Val579Leu
ENST00000610817.5:c.1792G>C	ENSP00000480593.2:n.1792G>C
ENST00000673639.2:c.279+522G>C
ENST00000676696.1:c.2014G>C	ENSP00000503392.1:n.2014G>C
ENST00000344736.8:c.1735G>C	ENSP00000358863.3:p.Val579Leu
ENST00000360319.8:c.1735G>C	ENSP00000353467.4:p.Val579Leu
ENST00000369850.7:c.1735G>C	ENSP00000358866.3:p.Val579Leu
ENST00000369856.7:c.1654G>C	ENSP00000358872.4:p.Val552Leu
ENST00000420627.5:c.1691G>C	ENSP00000408921.1:p.Gly564Ala
ENST00000422373.5:c.1735G>C	ENSP00000416926.1:p.Val579Leu
ENST00000465144.1:n.116G>C
ENST00000610817.4:c.1654G>C	ENSP00000480593.1:p.Val552Leu
NM_001110556.1:c.1735G>C	NP_001104026.1:p.Val579Leu
NM_001456.3:c.1735G>C	NP_001447.2:p.Val579Leu
XM_011531127.1:c.1735G>C	XP_011529429.1:p.Val579Leu
XM_011531128.1:c.1735G>C	XP_011529430.1:p.Val579Leu
XM_011531129.1:c.1735G>C	XP_011529431.1:p.Val579Leu
XM_011531130.1:c.1735G>C	XP_011529432.1:p.Val579Leu
XM_011531131.1:c.1534G>C	XP_011529433.1:p.Val512Leu
NM_001110556.2:c.1735G>C MANE Select	NP_001104026.1:p.Val579Leu
NM_001456.4:c.1735G>C	NP_001447.2:p.Val579Leu