Canonical Allele Identifier: CA369212694

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 1466392
• ClinVar RCV Id: RCV001966070
• dbSNP Id: rs2128939248
• MyVariant Identifiers: chr7:g.128494042A>G (hg19) ; chr7:g.128853988A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128853988A>G , CM000669.2:g.128853988A>G	GRCh38
NC_000007.13:g.128494042A>G , CM000669.1:g.128494042A>G	GRCh37
NC_000007.12:g.128281278A>G	NCBI36
NG_011807.1:g.28560A>G , LRG_870:g.28560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.6499A>G (FLNC) MANE Select	ENSP00000327145.8:p.Met2167Val
ENST00000325888.12:c.6499A>G (FLNC)	ENSP00000327145.8:p.Met2167Val
ENST00000346177.6:c.6400A>G (FLNC)	ENSP00000344002.6:p.Met2134Val
NM_001127487.1:c.6400A>G (FLNC)	NP_001120959.1:p.Met2134Val
NM_001458.4:c.6499A>G , LRG_870t1:c.6499A>G (FLNC)	NP_001449.3:p.Met2167Val
NR_149055.1:n.103-591T>C (FLNC-AS1)
NM_001127487.2:c.6400A>G (FLNC)	NP_001120959.1:p.Met2134Val
NM_001458.5:c.6499A>G (FLNC) MANE Select	NP_001449.3:p.Met2167Val