Canonical Allele Identifier: CA166183073
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2933092
ClinVar RCV Id: RCV003790210
dbSNP Id: rs757187593

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847834C>A , CM000669.2:g.128847834C>A GRCh38
NC_000007.13:g.128487888C>A , CM000669.1:g.128487888C>A GRCh37
NC_000007.12:g.128275124C>A NCBI36
NG_011807.1:g.22406C>A , LRG_870:g.22406C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4426C>A MANE Select ENSP00000327145.8:p.Pro1476Thr
ENST00000325888.12:c.4426C>A ENSP00000327145.8:p.Pro1476Thr
ENST00000346177.6:c.4426C>A ENSP00000344002.6:p.Pro1476Thr
NM_001127487.1:c.4426C>A NP_001120959.1:p.Pro1476Thr
NM_001458.4:c.4426C>A , LRG_870t1:c.4426C>A NP_001449.3:p.Pro1476Thr
NM_001127487.2:c.4426C>A NP_001120959.1:p.Pro1476Thr
NM_001458.5:c.4426C>A MANE Select NP_001449.3:p.Pro1476Thr