Canonical Allele Identifier: CA4475405
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 472073
ClinVar RCV Id: RCV000531313 RCV000788621 RCV002330945
dbSNP Id: rs745648230
ExAC: 7:128488661 C / T
gnomAD v2: 7-128488661-C-T
gnomAD v3: 7-128848607-C-T
gnomAD v4: 7-128848607-C-T
COSMIC: COSM347341
MyVariant Identifiers: chr7:g.128488661C>T (hg19) chr7:g.128848607C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128848607C>T , CM000669.2:g.128848607C>T GRCh38
NC_000007.13:g.128488661C>T , CM000669.1:g.128488661C>T GRCh37
NC_000007.12:g.128275897C>T NCBI36
NG_011807.1:g.23179C>T , LRG_870:g.23179C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4627C>T MANE Select ENSP00000327145.8:p.Arg1543Trp
ENST00000325888.12:c.4627C>T ENSP00000327145.8:p.Arg1543Trp
ENST00000346177.6:c.4627C>T ENSP00000344002.6:p.Arg1543Trp
NM_001127487.1:c.4627C>T NP_001120959.1:p.Arg1543Trp
NM_001458.4:c.4627C>T , LRG_870t1:c.4627C>T NP_001449.3:p.Arg1543Trp
NM_001127487.2:c.4627C>T NP_001120959.1:p.Arg1543Trp
NM_001458.5:c.4627C>T MANE Select NP_001449.3:p.Arg1543Trp
Search 100 bp 5'
Search 100 bp 3'