Canonical Allele Identifier: CA16621255
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 423211
ClinVar RCV Id: RCV000482242
dbSNP Id: rs1064796297
MyVariant Identifiers: chrX:g.153592535T>C (hg19) chrX:g.154364167T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154364167T>C , CM000685.2:g.154364167T>C GRCh38
NC_000023.10:g.153592535T>C , CM000685.1:g.153592535T>C GRCh37
NC_000023.9:g.153245729T>C NCBI36
NG_011506.1:g.15472A>G
NG_011506.2:g.15472A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.2137-2A>G ENSP00000353467.4:n.2137-2A>G
ENST00000369850.10:c.2137-2A>G MANE Select ENSP00000358866.3:n.2137-2A>G
ENST00000369856.8:c.2056-2A>G ENSP00000358872.4:n.2056-2A>G
ENST00000422373.6:c.2137-2A>G ENSP00000416926.2:n.2137-2A>G
ENST00000610817.5:c.2194-2A>G ENSP00000480593.2:n.2194-2A>G
ENST00000673639.2:c.279+1269A>G
ENST00000676696.1:c.2416-2A>G ENSP00000503392.1:n.2416-2A>G
ENST00000344736.8:c.2137-2A>G ENSP00000358863.3:n.2137-2A>G
ENST00000360319.8:c.2137-2A>G ENSP00000353467.4:n.2137-2A>G
ENST00000369850.7:c.2137-2A>G ENSP00000358866.3:n.2137-2A>G
ENST00000369856.7:c.2056-2A>G ENSP00000358872.4:n.2056-2A>G
ENST00000420627.5:c.2093-2A>G ENSP00000408921.1:n.2093-2A>G
ENST00000422373.5:c.2137-2A>G ENSP00000416926.1:n.2137-2A>G
ENST00000610817.4:c.2056-2A>G ENSP00000480593.1:n.2056-2A>G
NM_001110556.1:c.2137-2A>G NP_001104026.1:n.2137-2A>G
NM_001456.3:c.2137-2A>G NP_001447.2:n.2137-2A>G
XM_011531127.1:c.2137-2A>G XP_011529429.1:n.2137-2A>G
XM_011531128.1:c.2137-2A>G XP_011529430.1:n.2137-2A>G
XM_011531129.1:c.2137-2A>G XP_011529431.1:n.2137-2A>G
XM_011531130.1:c.2137-2A>G XP_011529432.1:n.2137-2A>G
XM_011531131.1:c.1936-2A>G XP_011529433.1:n.1936-2A>G
NM_001110556.2:c.2137-2A>G MANE Select NP_001104026.1:n.2137-2A>G
NM_001456.4:c.2137-2A>G NP_001447.2:n.2137-2A>G
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