Canonical Allele Identifier: CA369193214
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2941305
ClinVar RCV Id: RCV003792567

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128843537A>C , CM000669.2:g.128843537A>C GRCh38
NC_000007.13:g.128483591A>C , CM000669.1:g.128483591A>C GRCh37
NC_000007.12:g.128270827A>C NCBI36
NG_011807.1:g.18109A>C , LRG_870:g.18109A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.2771A>C MANE Select ENSP00000327145.8:p.His924Pro
ENST00000325888.12:c.2771A>C ENSP00000327145.8:p.His924Pro
ENST00000346177.6:c.2771A>C ENSP00000344002.6:p.His924Pro
NM_001127487.1:c.2771A>C NP_001120959.1:p.His924Pro
NM_001458.4:c.2771A>C , LRG_870t1:c.2771A>C NP_001449.3:p.His924Pro
NM_001127487.2:c.2771A>C NP_001120959.1:p.His924Pro
NM_001458.5:c.2771A>C MANE Select NP_001449.3:p.His924Pro