Canonical Allele Identifier: CA16616451
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 405445
ClinVar RCV Id: RCV002230317
dbSNP Id: rs1060500716
MyVariant Identifiers: chrX:g.153588495G>A (hg19) chrX:g.154360127G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154360127G>A , CM000685.2:g.154360127G>A GRCh38
NC_000023.10:g.153588495G>A , CM000685.1:g.153588495G>A GRCh37
NC_000023.9:g.153241689G>A NCBI36
NG_011506.1:g.19512C>T
NG_011506.2:g.19512C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.3668C>T ENSP00000353467.4:p.Pro1223Leu
ENST00000369850.10:c.3668C>T MANE Select ENSP00000358866.3:p.Pro1223Leu
ENST00000369856.8:c.3587C>T ENSP00000358872.4:p.Pro1196Leu
ENST00000422373.6:c.3160+1228C>T ENSP00000416926.2:n.3160+1228C>T
ENST00000610817.5:c.3725C>T ENSP00000480593.2:n.3725C>T
ENST00000673639.2:c.279+5309C>T
ENST00000676696.1:c.3947C>T ENSP00000503392.1:n.3947C>T
ENST00000344736.8:c.3668C>T ENSP00000358863.3:p.Pro1223Leu
ENST00000360319.8:c.3668C>T ENSP00000353467.4:p.Pro1223Leu
ENST00000369850.7:c.3668C>T ENSP00000358866.3:p.Pro1223Leu
ENST00000369856.7:c.3587C>T ENSP00000358872.4:p.Pro1196Leu
ENST00000420627.5:c.3624C>T ENSP00000408921.1:n.3624C>T
ENST00000422373.5:c.3668C>T ENSP00000416926.1:p.Pro1223Leu
ENST00000610817.4:c.3587C>T ENSP00000480593.1:p.Pro1196Leu
NM_001110556.1:c.3668C>T NP_001104026.1:p.Pro1223Leu
NM_001456.3:c.3668C>T NP_001447.2:p.Pro1223Leu
XM_011531127.1:c.3668C>T XP_011529429.1:p.Pro1223Leu
XM_011531128.1:c.3668C>T XP_011529430.1:p.Pro1223Leu
XM_011531129.1:c.3668C>T XP_011529431.1:p.Pro1223Leu
XM_011531130.1:c.3668C>T XP_011529432.1:p.Pro1223Leu
XM_011531131.1:c.3467C>T XP_011529433.1:p.Pro1156Leu
NM_001110556.2:c.3668C>T MANE Select NP_001104026.1:p.Pro1223Leu
NM_001456.4:c.3668C>T NP_001447.2:p.Pro1223Leu
Search 100 bp 5'
Search 100 bp 3'