Canonical Allele Identifier: CA10559887
Community Standard Title: NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154349733T>C , CM000685.2:g.154349733T>C GRCh38
NC_000023.10:g.153578101T>C , CM000685.1:g.153578101T>C GRCh37
NC_000023.9:g.153231295T>C NCBI36
NG_011506.1:g.29906A>G
NG_011506.2:g.29906A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.7468A>G MANE Select NP_001104026.1:p.Met2490Val
ENST00000369850.10:c.7468A>G MANE Select ENSP00000358866.3:p.Met2490Val
NM_001110556.1:c.7468A>G NP_001104026.1:p.Met2490Val
NM_001456.3:c.7444A>G NP_001447.2:p.Met2482Val
NM_001456.4:c.7444A>G NP_001447.2:p.Met2482Val
ENST00000344736.8:c.7348A>G ENSP00000358863.3:p.Met2450Val
ENST00000360319.8:c.7444A>G ENSP00000353467.4:p.Met2482Val
ENST00000360319.9:c.7444A>G ENSP00000353467.4:p.Met2482Val
ENST00000369850.7:c.7468A>G ENSP00000358866.3:p.Met2490Val
ENST00000369856.7:c.7387A>G ENSP00000358872.4:p.Met2463Val
ENST00000369856.8:c.7387A>G ENSP00000358872.4:p.Met2463Val
ENST00000420627.5:c.7424A>G ENSP00000408921.1:n.7424A>G
ENST00000422373.5:c.7444A>G ENSP00000416926.1:p.Met2482Val
ENST00000422373.6:c.4249A>G ENSP00000416926.2:p.Met1417Val
ENST00000462590.1:n.623A>G
ENST00000490936.5:n.4697A>G
ENST00000498411.1:n.68-903A>G
ENST00000498491.5:n.509A>G
ENST00000610817.4:c.6472A>G ENSP00000480593.1:p.Met2158Val
ENST00000610817.5:c.7525A>G ENSP00000480593.2:n.7525A>G
ENST00000673639.2:c.280-1043A>G
ENST00000676696.1:c.7747A>G ENSP00000503392.1:n.7747A>G
ENST00000678304.1:n.3186A>G
XM_011531127.1:c.7372A>G XP_011529429.1:p.Met2458Val
XM_011531128.1:c.7348A>G XP_011529430.1:p.Met2450Val
XM_011531129.1:c.7294A>G XP_011529431.1:p.Met2432Val
XM_011531130.1:c.7270A>G XP_011529432.1:p.Met2424Val
XM_011531131.1:c.7267A>G XP_011529433.1:p.Met2423Val