Canonical Allele Identifier: CA4474517
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 774758
ClinVar RCV Id: RCV002066342 RCV002409273 RCV003897927
dbSNP Id: rs199715890
ExAC: 7:128481261 A / G
gnomAD v2: 7-128481261-A-G
gnomAD v3: 7-128841207-A-G
gnomAD v4: 7-128841207-A-G
MyVariant Identifiers: chr7:g.128481261A>G (hg19) chr7:g.128841207A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841207A>G , CM000669.2:g.128841207A>G GRCh38
NC_000007.13:g.128481261A>G , CM000669.1:g.128481261A>G GRCh37
NC_000007.12:g.128268497A>G NCBI36
NG_011807.1:g.15779A>G , LRG_870:g.15779A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1851A>G MANE Select ENSP00000327145.8:p.Glu617=
ENST00000325888.12:c.1851A>G ENSP00000327145.8:p.Glu617=
ENST00000346177.6:c.1851A>G ENSP00000344002.6:p.Glu617=
NM_001127487.1:c.1851A>G NP_001120959.1:p.Glu617=
NM_001458.4:c.1851A>G , LRG_870t1:c.1851A>G NP_001449.3:p.Glu617=
NM_001127487.2:c.1851A>G NP_001120959.1:p.Glu617=
NM_001458.5:c.1851A>G MANE Select NP_001449.3:p.Glu617=
Search 100 bp 5'
Search 100 bp 3'