Canonical Allele Identifier: CA369201955
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1471615
ClinVar RCV Id: RCV001966868
dbSNP Id: rs1445118718
gnomAD v2: 7-128488073-G-A
gnomAD v4: 7-128848019-G-A
MyVariant Identifiers: chr7:g.128488073G>A (hg19) chr7:g.128848019G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128848019G>A , CM000669.2:g.128848019G>A GRCh38
NC_000007.13:g.128488073G>A , CM000669.1:g.128488073G>A GRCh37
NC_000007.12:g.128275309G>A NCBI36
NG_011807.1:g.22591G>A , LRG_870:g.22591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4531G>A MANE Select ENSP00000327145.8:p.Gly1511Arg
ENST00000325888.12:c.4531G>A ENSP00000327145.8:p.Gly1511Arg
ENST00000346177.6:c.4531G>A ENSP00000344002.6:p.Gly1511Arg
NM_001127487.1:c.4531G>A NP_001120959.1:p.Gly1511Arg
NM_001458.4:c.4531G>A , LRG_870t1:c.4531G>A NP_001449.3:p.Gly1511Arg
NM_001127487.2:c.4531G>A NP_001120959.1:p.Gly1511Arg
NM_001458.5:c.4531G>A MANE Select NP_001449.3:p.Gly1511Arg
Search 100 bp 5'
Search 100 bp 3'