Canonical Allele Identifier: CA369227172
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 3221705
ClinVar RCV Id: RCV004511029
MyVariant Identifiers: chr7:g.128481244T>C (hg19) chr7:g.128841190T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841190T>C , CM000669.2:g.128841190T>C GRCh38
NC_000007.13:g.128481244T>C , CM000669.1:g.128481244T>C GRCh37
NC_000007.12:g.128268480T>C NCBI36
NG_011807.1:g.15762T>C , LRG_870:g.15762T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1834T>C MANE Select ENSP00000327145.8:p.Ser612Pro
ENST00000325888.12:c.1834T>C ENSP00000327145.8:p.Ser612Pro
ENST00000346177.6:c.1834T>C ENSP00000344002.6:p.Ser612Pro
NM_001127487.1:c.1834T>C NP_001120959.1:p.Ser612Pro
NM_001458.4:c.1834T>C , LRG_870t1:c.1834T>C NP_001449.3:p.Ser612Pro
NM_001127487.2:c.1834T>C NP_001120959.1:p.Ser612Pro
NM_001458.5:c.1834T>C MANE Select NP_001449.3:p.Ser612Pro
Search 100 bp 5'
Search 100 bp 3'