Canonical Allele Identifier: CA415197066
Gene: FLNA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353314G>C , CM000685.2:g.154353314G>C GRCh38
NC_000023.10:g.153581682G>C , CM000685.1:g.153581682G>C GRCh37
NC_000023.9:g.153234876G>C NCBI36
NG_011506.1:g.26325C>G
NG_011506.2:g.26325C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5980C>G ENSP00000353467.4:p.Leu1994Val
ENST00000369850.10:c.6004C>G MANE Select ENSP00000358866.3:p.Leu2002Val
ENST00000369856.8:c.5923C>G ENSP00000358872.4:p.Leu1975Val
ENST00000422373.6:c.3161-639C>G ENSP00000416926.2:n.3161-639C>G
ENST00000610817.5:c.6061C>G ENSP00000480593.2:n.6061C>G
ENST00000673639.2:c.280-4624C>G
ENST00000676696.1:c.6283C>G ENSP00000503392.1:n.6283C>G
ENST00000678304.1:n.1183C>G
ENST00000344736.8:c.5884C>G ENSP00000358863.3:p.Leu1962Val
ENST00000360319.8:c.5980C>G ENSP00000353467.4:p.Leu1994Val
ENST00000369850.7:c.6004C>G ENSP00000358866.3:p.Leu2002Val
ENST00000369856.7:c.5923C>G ENSP00000358872.4:p.Leu1975Val
ENST00000415241.1:c.189C>G
ENST00000420627.5:c.5960C>G ENSP00000408921.1:n.5960C>G
ENST00000422373.5:c.5980C>G ENSP00000416926.1:p.Leu1994Val
ENST00000438732.2:c.678C>G
ENST00000466325.1:n.143C>G
ENST00000490936.5:n.1993C>G
ENST00000610817.4:c.5844+79C>G ENSP00000480593.1:n.5844+79C>G
NM_001110556.1:c.6004C>G NP_001104026.1:p.Leu2002Val
NM_001456.3:c.5980C>G NP_001447.2:p.Leu1994Val
XM_011531127.1:c.5908C>G XP_011529429.1:p.Leu1970Val
XM_011531128.1:c.5884C>G XP_011529430.1:p.Leu1962Val
XM_011531129.1:c.5830C>G XP_011529431.1:p.Leu1944Val
XM_011531130.1:c.5806C>G XP_011529432.1:p.Leu1936Val
XM_011531131.1:c.5803C>G XP_011529433.1:p.Leu1935Val
NM_001110556.2:c.6004C>G MANE Select NP_001104026.1:p.Leu2002Val
NM_001456.4:c.5980C>G NP_001447.2:p.Leu1994Val