Canonical Allele Identifier: CA10560955
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 519868
dbSNP Id: rs371839875

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362742A>G , CM000685.2:g.154362742A>G GRCh38
NC_000023.10:g.153591110A>G , CM000685.1:g.153591110A>G GRCh37
NC_000023.9:g.153244304A>G NCBI36
NG_011506.1:g.16897T>C
NG_011506.2:g.16897T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.2323T>C ENSP00000353467.4:p.Tyr775His
ENST00000369850.10:c.2323T>C MANE Select ENSP00000358866.3:p.Tyr775His
ENST00000369856.8:c.2242T>C ENSP00000358872.4:p.Tyr748His
ENST00000422373.6:c.2323T>C ENSP00000416926.2:p.Tyr775His
ENST00000610817.5:c.2380T>C ENSP00000480593.2:n.2380T>C
ENST00000673639.2:c.279+2694T>C
ENST00000676696.1:c.2602T>C ENSP00000503392.1:n.2602T>C
ENST00000344736.8:c.2323T>C ENSP00000358863.3:p.Tyr775His
ENST00000360319.8:c.2323T>C ENSP00000353467.4:p.Tyr775His
ENST00000369850.7:c.2323T>C ENSP00000358866.3:p.Tyr775His
ENST00000369856.7:c.2242T>C ENSP00000358872.4:p.Tyr748His
ENST00000420627.5:c.2279T>C ENSP00000408921.1:n.2279T>C
ENST00000422373.5:c.2323T>C ENSP00000416926.1:p.Tyr775His
ENST00000610817.4:c.2242T>C ENSP00000480593.1:p.Tyr748His
NM_001110556.1:c.2323T>C NP_001104026.1:p.Tyr775His
NM_001456.3:c.2323T>C NP_001447.2:p.Tyr775His
XM_011531127.1:c.2323T>C XP_011529429.1:p.Tyr775His
XM_011531128.1:c.2323T>C XP_011529430.1:p.Tyr775His
XM_011531129.1:c.2323T>C XP_011529431.1:p.Tyr775His
XM_011531130.1:c.2323T>C XP_011529432.1:p.Tyr775His
XM_011531131.1:c.2122T>C XP_011529433.1:p.Tyr708His
NM_001110556.2:c.2323T>C MANE Select NP_001104026.1:p.Tyr775His
NM_001456.4:c.2323T>C NP_001447.2:p.Tyr775His