Canonical Allele Identifier: CA4474738
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2946490
ClinVar RCV Id: RCV003808728
dbSNP Id: rs767967255
ExAC: 7:128482918 C / A
gnomAD v2: 7-128482918-C-A
MyVariant Identifiers: chr7:g.128482918C>A (hg19) chr7:g.128842864C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128842864C>A , CM000669.2:g.128842864C>A GRCh38
NC_000007.13:g.128482918C>A , CM000669.1:g.128482918C>A GRCh37
NC_000007.12:g.128270154C>A NCBI36
NG_011807.1:g.17436C>A , LRG_870:g.17436C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.2460C>A MANE Select ENSP00000327145.8:p.Asp820Glu
ENST00000325888.12:c.2460C>A ENSP00000327145.8:p.Asp820Glu
ENST00000346177.6:c.2460C>A ENSP00000344002.6:p.Asp820Glu
NM_001127487.1:c.2460C>A NP_001120959.1:p.Asp820Glu
NM_001458.4:c.2460C>A , LRG_870t1:c.2460C>A NP_001449.3:p.Asp820Glu
NM_001127487.2:c.2460C>A NP_001120959.1:p.Asp820Glu
NM_001458.5:c.2460C>A MANE Select NP_001449.3:p.Asp820Glu
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Search 100 bp 3'