Canonical Allele Identifier: CA369196802
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 582381
ClinVar RCV Id: RCV000706434
dbSNP Id: rs1562996847

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844880C>T , CM000669.2:g.128844880C>T GRCh38
NC_000007.13:g.128484934C>T , CM000669.1:g.128484934C>T GRCh37
NC_000007.12:g.128272170C>T NCBI36
NG_011807.1:g.19452C>T , LRG_870:g.19452C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3415C>T MANE Select ENSP00000327145.8:p.His1139Tyr
ENST00000325888.12:c.3415C>T ENSP00000327145.8:p.His1139Tyr
ENST00000346177.6:c.3415C>T ENSP00000344002.6:p.His1139Tyr
NM_001127487.1:c.3415C>T NP_001120959.1:p.His1139Tyr
NM_001458.4:c.3415C>T , LRG_870t1:c.3415C>T NP_001449.3:p.His1139Tyr
NM_001127487.2:c.3415C>T NP_001120959.1:p.His1139Tyr
NM_001458.5:c.3415C>T MANE Select NP_001449.3:p.His1139Tyr