Canonical Allele Identifier: CA415216333
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154359020C>G , CM000685.2:g.154359020C>G GRCh38
NC_000023.10:g.153587388C>G , CM000685.1:g.153587388C>G GRCh37
NC_000023.9:g.153240582C>G NCBI36
NG_011506.1:g.20619G>C
NG_011506.2:g.20619G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.4438G>C ENSP00000353467.4:p.Val1480Leu
ENST00000369850.10:c.4438G>C MANE Select ENSP00000358866.3:p.Val1480Leu
ENST00000369856.8:c.4357G>C ENSP00000358872.4:p.Val1453Leu
ENST00000422373.6:c.3160+2335G>C ENSP00000416926.2:n.3160+2335G>C
ENST00000610817.5:c.4495G>C ENSP00000480593.2:n.4495G>C
ENST00000673639.2:c.279+6416G>C
ENST00000676696.1:c.4717G>C ENSP00000503392.1:n.4717G>C
ENST00000678304.1:n.148+69G>C
ENST00000344736.8:c.4438G>C ENSP00000358863.3:p.Val1480Leu
ENST00000360319.8:c.4438G>C ENSP00000353467.4:p.Val1480Leu
ENST00000369850.7:c.4438G>C ENSP00000358866.3:p.Val1480Leu
ENST00000369856.7:c.4357G>C ENSP00000358872.4:p.Val1453Leu
ENST00000420627.5:c.4394G>C ENSP00000408921.1:n.4394G>C
ENST00000422373.5:c.4438G>C ENSP00000416926.1:p.Val1480Leu
ENST00000490936.5:n.451G>C
ENST00000610817.4:c.4357G>C ENSP00000480593.1:p.Val1453Leu
NM_001110556.1:c.4438G>C NP_001104026.1:p.Val1480Leu
NM_001456.3:c.4438G>C NP_001447.2:p.Val1480Leu
XM_011531127.1:c.4438G>C XP_011529429.1:p.Val1480Leu
XM_011531128.1:c.4438G>C XP_011529430.1:p.Val1480Leu
XM_011531129.1:c.4438G>C XP_011529431.1:p.Val1480Leu
XM_011531130.1:c.4438G>C XP_011529432.1:p.Val1480Leu
XM_011531131.1:c.4237G>C XP_011529433.1:p.Val1413Leu
NM_001110556.2:c.4438G>C MANE Select NP_001104026.1:p.Val1480Leu
NM_001456.4:c.4438G>C NP_001447.2:p.Val1480Leu