Canonical Allele Identifier: CA369197819
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1734241
ClinVar RCV Id: RCV002349042

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845181C>T , CM000669.2:g.128845181C>T GRCh38
NC_000007.13:g.128485235C>T , CM000669.1:g.128485235C>T GRCh37
NC_000007.12:g.128272471C>T NCBI36
NG_011807.1:g.19753C>T , LRG_870:g.19753C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3716C>T MANE Select ENSP00000327145.8:p.Pro1239Leu
ENST00000325888.12:c.3716C>T ENSP00000327145.8:p.Pro1239Leu
ENST00000346177.6:c.3716C>T ENSP00000344002.6:p.Pro1239Leu
NM_001127487.1:c.3716C>T NP_001120959.1:p.Pro1239Leu
NM_001458.4:c.3716C>T , LRG_870t1:c.3716C>T NP_001449.3:p.Pro1239Leu
NM_001127487.2:c.3716C>T NP_001120959.1:p.Pro1239Leu
NM_001458.5:c.3716C>T MANE Select NP_001449.3:p.Pro1239Leu