Canonical Allele Identifier: CA4475372
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2441499
ClinVar RCV Id: RCV003144040 RCV003778877
dbSNP Id: rs765591592
ExAC: 7:128488082 A / G
gnomAD v2: 7-128488082-A-G
gnomAD v4: 7-128848028-A-G
MyVariant Identifiers: chr7:g.128488082A>G (hg19) chr7:g.128848028A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128848028A>G , CM000669.2:g.128848028A>G GRCh38
NC_000007.13:g.128488082A>G , CM000669.1:g.128488082A>G GRCh37
NC_000007.12:g.128275318A>G NCBI36
NG_011807.1:g.22600A>G , LRG_870:g.22600A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4540A>G MANE Select ENSP00000327145.8:p.Thr1514Ala
ENST00000325888.12:c.4540A>G ENSP00000327145.8:p.Thr1514Ala
ENST00000346177.6:c.4540A>G ENSP00000344002.6:p.Thr1514Ala
NM_001127487.1:c.4540A>G NP_001120959.1:p.Thr1514Ala
NM_001458.4:c.4540A>G , LRG_870t1:c.4540A>G NP_001449.3:p.Thr1514Ala
NM_001127487.2:c.4540A>G NP_001120959.1:p.Thr1514Ala
NM_001458.5:c.4540A>G MANE Select NP_001449.3:p.Thr1514Ala
Search 100 bp 5'
Search 100 bp 3'