Canonical Allele Identifier: CA415207461

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354882G>C , CM000685.2:g.154354882G>C	GRCh38
NC_000023.10:g.153583250G>C , CM000685.1:g.153583250G>C	GRCh37
NC_000023.9:g.153236444G>C	NCBI36
NG_011506.1:g.24757C>G
NG_011506.2:g.24757C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.5160C>G MANE Select	NP_001104026.1:p.Tyr1720Ter
ENST00000369850.10:c.5160C>G MANE Select	ENSP00000358866.3:p.Tyr1720Ter
NM_001110556.1:c.5160C>G	NP_001104026.1:p.Tyr1720Ter
NM_001456.3:c.5136C>G	NP_001447.2:p.Tyr1712Ter
NM_001456.4:c.5136C>G	NP_001447.2:p.Tyr1712Ter
ENST00000344736.8:c.5136C>G	ENSP00000358863.3:p.Tyr1712Ter
ENST00000360319.8:c.5136C>G	ENSP00000353467.4:p.Tyr1712Ter
ENST00000360319.9:c.5136C>G	ENSP00000353467.4:p.Tyr1712Ter
ENST00000369850.7:c.5160C>G	ENSP00000358866.3:p.Tyr1720Ter
ENST00000369856.7:c.5079C>G	ENSP00000358872.4:p.Tyr1693Ter
ENST00000369856.8:c.5079C>G	ENSP00000358872.4:p.Tyr1693Ter
ENST00000420627.5:c.5116C>G	ENSP00000408921.1:n.5116C>G
ENST00000422373.5:c.5136C>G	ENSP00000416926.1:p.Tyr1712Ter
ENST00000422373.6:c.3161-2207C>G	ENSP00000416926.2:n.3161-2207C>G
ENST00000438732.2:c.8C>G
ENST00000490936.5:n.1149C>G
ENST00000610817.4:c.5079C>G	ENSP00000480593.1:p.Tyr1693Ter
ENST00000610817.5:c.5217C>G	ENSP00000480593.2:n.5217C>G
ENST00000673639.2:c.280-6192C>G
ENST00000676696.1:c.5439C>G	ENSP00000503392.1:n.5439C>G
ENST00000678304.1:n.339C>G
XM_011531127.1:c.5160C>G	XP_011529429.1:p.Tyr1720Ter
XM_011531128.1:c.5136C>G	XP_011529430.1:p.Tyr1712Ter
XM_011531129.1:c.5160C>G	XP_011529431.1:p.Tyr1720Ter
XM_011531130.1:c.5136C>G	XP_011529432.1:p.Tyr1712Ter
XM_011531131.1:c.4959C>G	XP_011529433.1:p.Tyr1653Ter