Canonical Allele Identifier: CA415237309

Gene: FLNA

Linked Data

• gnomAD v4: X-154362697-T-C
• MyVariant Identifiers: chrX:g.153591065T>C (hg19) ; chrX:g.154362697T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362697T>C , CM000685.2:g.154362697T>C	GRCh38
NC_000023.10:g.153591065T>C , CM000685.1:g.153591065T>C	GRCh37
NC_000023.9:g.153244259T>C	NCBI36
NG_011506.1:g.16942A>G
NG_011506.2:g.16942A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2368A>G	ENSP00000353467.4:p.Thr790Ala
ENST00000369850.10:c.2368A>G MANE Select	ENSP00000358866.3:p.Thr790Ala
ENST00000369856.8:c.2287A>G	ENSP00000358872.4:p.Thr763Ala
ENST00000422373.6:c.2368A>G	ENSP00000416926.2:p.Thr790Ala
ENST00000610817.5:c.2425A>G	ENSP00000480593.2:n.2425A>G
ENST00000673639.2:c.279+2739A>G
ENST00000676696.1:c.2647A>G	ENSP00000503392.1:n.2647A>G
ENST00000344736.8:c.2368A>G	ENSP00000358863.3:p.Thr790Ala
ENST00000360319.8:c.2368A>G	ENSP00000353467.4:p.Thr790Ala
ENST00000369850.7:c.2368A>G	ENSP00000358866.3:p.Thr790Ala
ENST00000369856.7:c.2287A>G	ENSP00000358872.4:p.Thr763Ala
ENST00000420627.5:c.2324A>G	ENSP00000408921.1:n.2324A>G
ENST00000422373.5:c.2368A>G	ENSP00000416926.1:p.Thr790Ala
ENST00000610817.4:c.2287A>G	ENSP00000480593.1:p.Thr763Ala
NM_001110556.1:c.2368A>G	NP_001104026.1:p.Thr790Ala
NM_001456.3:c.2368A>G	NP_001447.2:p.Thr790Ala
XM_011531127.1:c.2368A>G	XP_011529429.1:p.Thr790Ala
XM_011531128.1:c.2368A>G	XP_011529430.1:p.Thr790Ala
XM_011531129.1:c.2368A>G	XP_011529431.1:p.Thr790Ala
XM_011531130.1:c.2368A>G	XP_011529432.1:p.Thr790Ala
XM_011531131.1:c.2167A>G	XP_011529433.1:p.Thr723Ala
NM_001110556.2:c.2368A>G MANE Select	NP_001104026.1:p.Thr790Ala
NM_001456.4:c.2368A>G	NP_001447.2:p.Thr790Ala