Canonical Allele Identifier: CA369212688

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 1714617
• ClinVar RCV Id: RCV002295708
• MyVariant Identifiers: chr7:g.128494040A>C (hg19) ; chr7:g.128853986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128853986A>C , CM000669.2:g.128853986A>C	GRCh38
NC_000007.13:g.128494040A>C , CM000669.1:g.128494040A>C	GRCh37
NC_000007.12:g.128281276A>C	NCBI36
NG_011807.1:g.28558A>C , LRG_870:g.28558A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6497A>C (FLNC) MANE Select	ENSP00000327145.8:p.Gln2166Pro
ENST00000325888.12:c.6497A>C (FLNC)	ENSP00000327145.8:p.Gln2166Pro
ENST00000346177.6:c.6398A>C (FLNC)	ENSP00000344002.6:p.Gln2133Pro
NM_001127487.1:c.6398A>C (FLNC)	NP_001120959.1:p.Gln2133Pro
NM_001458.4:c.6497A>C , LRG_870t1:c.6497A>C (FLNC)	NP_001449.3:p.Gln2166Pro
NR_149055.1:n.103-589T>G (FLNC-AS1)
NM_001127487.2:c.6398A>C (FLNC)	NP_001120959.1:p.Gln2133Pro
NM_001458.5:c.6497A>C (FLNC) MANE Select	NP_001449.3:p.Gln2166Pro