Canonical Allele Identifier: CA369227391
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1782894
ClinVar RCV Id: RCV002410927
gnomAD v4: 7-128841287-G-A
MyVariant Identifiers: chr7:g.128481341G>A (hg19) chr7:g.128841287G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841287G>A , CM000669.2:g.128841287G>A GRCh38
NC_000007.13:g.128481341G>A , CM000669.1:g.128481341G>A GRCh37
NC_000007.12:g.128268577G>A NCBI36
NG_011807.1:g.15859G>A , LRG_870:g.15859G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1931G>A MANE Select ENSP00000327145.8:p.Cys644Tyr
ENST00000325888.12:c.1931G>A ENSP00000327145.8:p.Cys644Tyr
ENST00000346177.6:c.1931G>A ENSP00000344002.6:p.Cys644Tyr
NM_001127487.1:c.1931G>A NP_001120959.1:p.Cys644Tyr
NM_001458.4:c.1931G>A , LRG_870t1:c.1931G>A NP_001449.3:p.Cys644Tyr
NM_001127487.2:c.1931G>A NP_001120959.1:p.Cys644Tyr
NM_001458.5:c.1931G>A MANE Select NP_001449.3:p.Cys644Tyr
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