Canonical Allele Identifier: CA369212807
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2507108
ClinVar RCV Id: RCV003238999

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128854042T>G , CM000669.2:g.128854042T>G GRCh38
NC_000007.13:g.128494096T>G , CM000669.1:g.128494096T>G GRCh37
NC_000007.12:g.128281332T>G NCBI36
NG_011807.1:g.28614T>G , LRG_870:g.28614T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6553T>G (FLNC) MANE Select ENSP00000327145.8:p.Tyr2185Asp
ENST00000325888.12:c.6553T>G (FLNC) ENSP00000327145.8:p.Tyr2185Asp
ENST00000346177.6:c.6454T>G (FLNC) ENSP00000344002.6:p.Tyr2152Asp
NM_001127487.1:c.6454T>G (FLNC) NP_001120959.1:p.Tyr2152Asp
NM_001458.4:c.6553T>G , LRG_870t1:c.6553T>G (FLNC) NP_001449.3:p.Tyr2185Asp
NR_149055.1:n.103-645A>C (FLNC-AS1)
NM_001127487.2:c.6454T>G (FLNC) NP_001120959.1:p.Tyr2152Asp
NM_001458.5:c.6553T>G (FLNC) MANE Select NP_001449.3:p.Tyr2185Asp