Canonical Allele Identifier: CA4476332
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 848269
ClinVar RCV Id: RCV001051989
dbSNP Id: rs771689118

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128857203G>T , CM000669.2:g.128857203G>T GRCh38
NC_000007.13:g.128497257G>T , CM000669.1:g.128497257G>T GRCh37
NC_000007.12:g.128284493G>T NCBI36
NG_011807.1:g.31775G>T , LRG_870:g.31775G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.7647G>T (FLNC) MANE Select ENSP00000327145.8:p.Gln2549His
ENST00000325888.12:c.7647G>T (FLNC) ENSP00000327145.8:p.Gln2549His
ENST00000346177.6:c.7548G>T (FLNC) ENSP00000344002.6:p.Gln2516His
NM_001127487.1:c.7548G>T (FLNC) NP_001120959.1:p.Gln2516His
NM_001458.4:c.7647G>T , LRG_870t1:c.7647G>T (FLNC) NP_001449.3:p.Gln2549His
NR_149055.1:n.103-3806C>A (FLNC-AS1)
NM_001127487.2:c.7548G>T (FLNC) NP_001120959.1:p.Gln2516His
NM_001458.5:c.7647G>T (FLNC) MANE Select NP_001449.3:p.Gln2549His