Canonical Allele Identifier: CA369200537
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2159284
ClinVar RCV Id: RCV003072735
gnomAD v4: 7-128846798-A-C
MyVariant Identifiers: chr7:g.128486852A>C (hg19) chr7:g.128846798A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128846798A>C , CM000669.2:g.128846798A>C GRCh38
NC_000007.13:g.128486852A>C , CM000669.1:g.128486852A>C GRCh37
NC_000007.12:g.128274088A>C NCBI36
NG_011807.1:g.21370A>C , LRG_870:g.21370A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.4181A>C MANE Select ENSP00000327145.8:p.Lys1394Thr
ENST00000325888.12:c.4181A>C ENSP00000327145.8:p.Lys1394Thr
ENST00000346177.6:c.4181A>C ENSP00000344002.6:p.Lys1394Thr
NM_001127487.1:c.4181A>C NP_001120959.1:p.Lys1394Thr
NM_001458.4:c.4181A>C , LRG_870t1:c.4181A>C NP_001449.3:p.Lys1394Thr
NM_001127487.2:c.4181A>C NP_001120959.1:p.Lys1394Thr
NM_001458.5:c.4181A>C MANE Select NP_001449.3:p.Lys1394Thr
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Search 100 bp 3'