Canonical Allele Identifier: CA16605647
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 382671
ClinVar RCV Id: RCV000445151 RCV000702103
dbSNP Id: rs912926530
gnomAD v2: 7-128485072-G-A
gnomAD v3: 7-128845018-G-A
gnomAD v4: 7-128845018-G-A
COSMIC: COSM5603606
MyVariant Identifiers: chr7:g.128485072G>A (hg19) chr7:g.128845018G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845018G>A , CM000669.2:g.128845018G>A GRCh38
NC_000007.13:g.128485072G>A , CM000669.1:g.128485072G>A GRCh37
NC_000007.12:g.128272308G>A NCBI36
NG_011807.1:g.19590G>A , LRG_870:g.19590G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.3553G>A MANE Select ENSP00000327145.8:p.Glu1185Lys
ENST00000325888.12:c.3553G>A ENSP00000327145.8:p.Glu1185Lys
ENST00000346177.6:c.3553G>A ENSP00000344002.6:p.Glu1185Lys
NM_001127487.1:c.3553G>A NP_001120959.1:p.Glu1185Lys
NM_001458.4:c.3553G>A , LRG_870t1:c.3553G>A NP_001449.3:p.Glu1185Lys
NM_001127487.2:c.3553G>A NP_001120959.1:p.Glu1185Lys
NM_001458.5:c.3553G>A MANE Select NP_001449.3:p.Glu1185Lys
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Search 100 bp 3'