Canonical Allele Identifier: CA4474163
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 858685
ClinVar RCV Id: RCV001729788 RCV002374969 RCV001064615 RCV002482085
dbSNP Id: rs776362922
ExAC: 7:128477745 C / T
gnomAD v2: 7-128477745-C-T
gnomAD v3: 7-128837691-C-T
gnomAD v4: 7-128837691-C-T
MyVariant Identifiers: chr7:g.128477745C>T (hg19) chr7:g.128837691C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128837691C>T , CM000669.2:g.128837691C>T GRCh38
NC_000007.13:g.128477745C>T , CM000669.1:g.128477745C>T GRCh37
NC_000007.12:g.128264981C>T NCBI36
NG_011807.1:g.12263C>T , LRG_870:g.12263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.905C>T MANE Select ENSP00000327145.8:p.Thr302Met
ENST00000325888.12:c.905C>T ENSP00000327145.8:p.Thr302Met
ENST00000346177.6:c.905C>T ENSP00000344002.6:p.Thr302Met
NM_001127487.1:c.905C>T NP_001120959.1:p.Thr302Met
NM_001458.4:c.905C>T , LRG_870t1:c.905C>T NP_001449.3:p.Thr302Met
NM_001127487.2:c.905C>T NP_001120959.1:p.Thr302Met
NM_001458.5:c.905C>T MANE Select NP_001449.3:p.Thr302Met
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