Canonical Allele Identifier: CA369212776

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 539367
• ClinVar RCV Id: RCV000649095 ; RCV002360620
• dbSNP Id: rs1554401209
• gnomAD v4: 7-128854028-G-C
• MyVariant Identifiers: chr7:g.128494082G>C (hg19) ; chr7:g.128854028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128854028G>C , CM000669.2:g.128854028G>C	GRCh38
NC_000007.13:g.128494082G>C , CM000669.1:g.128494082G>C	GRCh37
NC_000007.12:g.128281318G>C	NCBI36
NG_011807.1:g.28600G>C , LRG_870:g.28600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6539G>C (FLNC) MANE Select	ENSP00000327145.8:p.Arg2180Pro
ENST00000325888.12:c.6539G>C (FLNC)	ENSP00000327145.8:p.Arg2180Pro
ENST00000346177.6:c.6440G>C (FLNC)	ENSP00000344002.6:p.Arg2147Pro
NM_001127487.1:c.6440G>C (FLNC)	NP_001120959.1:p.Arg2147Pro
NM_001458.4:c.6539G>C , LRG_870t1:c.6539G>C (FLNC)	NP_001449.3:p.Arg2180Pro
NR_149055.1:n.103-631C>G (FLNC-AS1)
NM_001127487.2:c.6440G>C (FLNC)	NP_001120959.1:p.Arg2147Pro
NM_001458.5:c.6539G>C (FLNC) MANE Select	NP_001449.3:p.Arg2180Pro