Canonical Allele Identifier: CA369208563
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 539338
ClinVar RCV Id: RCV000649065
dbSNP Id: rs764747370

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851599C>T , CM000669.2:g.128851599C>T GRCh38
NC_000007.13:g.128491653C>T , CM000669.1:g.128491653C>T GRCh37
NC_000007.12:g.128278889C>T NCBI36
NG_011807.1:g.26171C>T , LRG_870:g.26171C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5813C>T (FLNC) MANE Select ENSP00000327145.8:p.Pro1938Leu
ENST00000325888.12:c.5813C>T (FLNC) ENSP00000327145.8:p.Pro1938Leu
ENST00000346177.6:c.5714C>T (FLNC) ENSP00000344002.6:p.Pro1905Leu
NM_001127487.1:c.5714C>T (FLNC) NP_001120959.1:p.Pro1905Leu
NM_001458.4:c.5813C>T , LRG_870t1:c.5813C>T (FLNC) NP_001449.3:p.Pro1938Leu
NR_149055.1:n.216-99G>A (FLNC-AS1)
NM_001127487.2:c.5714C>T (FLNC) NP_001120959.1:p.Pro1905Leu
NM_001458.5:c.5813C>T (FLNC) MANE Select NP_001449.3:p.Pro1938Leu