Canonical Allele Identifier: CA4476003
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2937798
ClinVar RCV Id: RCV003794428
dbSNP Id: rs751507158
ExAC: 7:128494043 T / C
gnomAD v2: 7-128494043-T-C
gnomAD v4: 7-128853989-T-C
MyVariant Identifiers: chr7:g.128494043T>C (hg19) chr7:g.128853989T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128853989T>C , CM000669.2:g.128853989T>C GRCh38
NC_000007.13:g.128494043T>C , CM000669.1:g.128494043T>C GRCh37
NC_000007.12:g.128281279T>C NCBI36
NG_011807.1:g.28561T>C , LRG_870:g.28561T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.6500T>C (FLNC) MANE Select ENSP00000327145.8:p.Met2167Thr
ENST00000325888.12:c.6500T>C (FLNC) ENSP00000327145.8:p.Met2167Thr
ENST00000346177.6:c.6401T>C (FLNC) ENSP00000344002.6:p.Met2134Thr
NM_001127487.1:c.6401T>C (FLNC) NP_001120959.1:p.Met2134Thr
NM_001458.4:c.6500T>C , LRG_870t1:c.6500T>C (FLNC) NP_001449.3:p.Met2167Thr
NR_149055.1:n.103-592A>G (FLNC-AS1)
NM_001127487.2:c.6401T>C (FLNC) NP_001120959.1:p.Met2134Thr
NM_001458.5:c.6500T>C (FLNC) MANE Select NP_001449.3:p.Met2167Thr
Search 100 bp 5'
Search 100 bp 3'