Canonical Allele Identifier: CA457582270
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1791322
ClinVar RCV Id: RCV002460030
dbSNP Id: rs1461339998
gnomAD v3: 7-128838317-G-C
gnomAD v4: 7-128838317-G-C
MyVariant Identifiers: chr7:g.128478371G>C (hg19) chr7:g.128838317G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128838317G>C , CM000669.2:g.128838317G>C GRCh38
NC_000007.13:g.128478371G>C , CM000669.1:g.128478371G>C GRCh37
NC_000007.12:g.128265607G>C NCBI36
NG_011807.1:g.12889G>C , LRG_870:g.12889G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1098G>C MANE Select ENSP00000327145.8:p.Val366=
ENST00000325888.12:c.1098G>C ENSP00000327145.8:p.Val366=
ENST00000346177.6:c.1098G>C ENSP00000344002.6:p.Val366=
NM_001127487.1:c.1098G>C NP_001120959.1:p.Val366=
NM_001458.4:c.1098G>C , LRG_870t1:c.1098G>C NP_001449.3:p.Val366=
NM_001127487.2:c.1098G>C NP_001120959.1:p.Val366=
NM_001458.5:c.1098G>C MANE Select NP_001449.3:p.Val366=
Search 100 bp 5'
Search 100 bp 3'