Canonical Allele Identifier: CA369197698
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2946250
ClinVar RCV Id: RCV003806536

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845154A>C , CM000669.2:g.128845154A>C GRCh38
NC_000007.13:g.128485208A>C , CM000669.1:g.128485208A>C GRCh37
NC_000007.12:g.128272444A>C NCBI36
NG_011807.1:g.19726A>C , LRG_870:g.19726A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3689A>C MANE Select ENSP00000327145.8:p.Tyr1230Ser
ENST00000325888.12:c.3689A>C ENSP00000327145.8:p.Tyr1230Ser
ENST00000346177.6:c.3689A>C ENSP00000344002.6:p.Tyr1230Ser
NM_001127487.1:c.3689A>C NP_001120959.1:p.Tyr1230Ser
NM_001458.4:c.3689A>C , LRG_870t1:c.3689A>C NP_001449.3:p.Tyr1230Ser
NM_001127487.2:c.3689A>C NP_001120959.1:p.Tyr1230Ser
NM_001458.5:c.3689A>C MANE Select NP_001449.3:p.Tyr1230Ser