Canonical Allele Identifier: CA415195692
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353070A>G , CM000685.2:g.154353070A>G GRCh38
NC_000023.10:g.153581438A>G , CM000685.1:g.153581438A>G GRCh37
NC_000023.9:g.153234632A>G NCBI36
NG_011506.1:g.26569T>C
NG_011506.2:g.26569T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6133T>C ENSP00000353467.4:p.Ser2045Pro
ENST00000369850.10:c.6157T>C MANE Select ENSP00000358866.3:p.Ser2053Pro
ENST00000369856.8:c.6076T>C ENSP00000358872.4:p.Ser2026Pro
ENST00000422373.6:c.3161-395T>C ENSP00000416926.2:n.3161-395T>C
ENST00000610817.5:c.6214T>C ENSP00000480593.2:n.6214T>C
ENST00000673639.2:c.280-4380T>C
ENST00000676696.1:c.6436T>C ENSP00000503392.1:n.6436T>C
ENST00000678304.1:n.1336T>C
ENST00000344736.8:c.6037T>C ENSP00000358863.3:p.Ser2013Pro
ENST00000360319.8:c.6133T>C ENSP00000353467.4:p.Ser2045Pro
ENST00000369850.7:c.6157T>C ENSP00000358866.3:p.Ser2053Pro
ENST00000369856.7:c.6076T>C ENSP00000358872.4:p.Ser2026Pro
ENST00000415241.1:c.359T>C
ENST00000420627.5:c.6113T>C ENSP00000408921.1:n.6113T>C
ENST00000422373.5:c.6133T>C ENSP00000416926.1:p.Ser2045Pro
ENST00000444578.1:c.100T>C ENSP00000397824.1:p.Ser34Pro
ENST00000466325.1:n.296T>C
ENST00000490936.5:n.2146T>C
ENST00000610817.4:c.5844+323T>C ENSP00000480593.1:n.5844+323T>C
NM_001110556.1:c.6157T>C NP_001104026.1:p.Ser2053Pro
NM_001456.3:c.6133T>C NP_001447.2:p.Ser2045Pro
XM_011531127.1:c.6061T>C XP_011529429.1:p.Ser2021Pro
XM_011531128.1:c.6037T>C XP_011529430.1:p.Ser2013Pro
XM_011531129.1:c.5983T>C XP_011529431.1:p.Ser1995Pro
XM_011531130.1:c.5959T>C XP_011529432.1:p.Ser1987Pro
XM_011531131.1:c.5956T>C XP_011529433.1:p.Ser1986Pro
NM_001110556.2:c.6157T>C MANE Select NP_001104026.1:p.Ser2053Pro
NM_001456.4:c.6133T>C NP_001447.2:p.Ser2045Pro