Canonical Allele Identifier: CA4474736

Gene: FLNC

Linked Data

• ClinVar Variation Id: 228692
• ClinVar RCV Id: RCV000221213 ; RCV000541682 ; RCV002500712
• dbSNP Id: rs200653747
• ExAC: 7:128482908 T / C
• gnomAD v2: 7-128482908-T-C
• gnomAD v3: 7-128842854-T-C
• gnomAD v4: 7-128842854-T-C
• MyVariant Identifiers: chr7:g.128482908T>C (hg19) ; chr7:g.128842854T>C (hg38)
• PubMed: PMID:21620354

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128842854T>C , CM000669.2:g.128842854T>C	GRCh38
NC_000007.13:g.128482908T>C , CM000669.1:g.128482908T>C	GRCh37
NC_000007.12:g.128270144T>C	NCBI36
NG_011807.1:g.17426T>C , LRG_870:g.17426T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.2450T>C MANE Select	ENSP00000327145.8:p.Ile817Thr
ENST00000325888.12:c.2450T>C	ENSP00000327145.8:p.Ile817Thr
ENST00000346177.6:c.2450T>C	ENSP00000344002.6:p.Ile817Thr
ENST00000388853.3:n.566T>C
NM_001127487.1:c.2450T>C	NP_001120959.1:p.Ile817Thr
NM_001458.4:c.2450T>C , LRG_870t1:c.2450T>C	NP_001449.3:p.Ile817Thr
NM_001127487.2:c.2450T>C	NP_001120959.1:p.Ile817Thr
NM_001458.5:c.2450T>C MANE Select	NP_001449.3:p.Ile817Thr