Canonical Allele Identifier: CA369220537

Gene: FLNC FLNC-AS1

Linked Data

• ClinVar Variation Id: 2085592
• ClinVar RCV Id: RCV002996350
• MyVariant Identifiers: chr7:g.128498215T>C (hg19) ; chr7:g.128858161T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128858161T>C , CM000669.2:g.128858161T>C	GRCh38
NC_000007.13:g.128498215T>C , CM000669.1:g.128498215T>C	GRCh37
NC_000007.12:g.128285451T>C	NCBI36
NG_011807.1:g.32733T>C , LRG_870:g.32733T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.7934T>C (FLNC) MANE Select	ENSP00000327145.8:p.Leu2645Pro
ENST00000325888.12:c.7934T>C (FLNC)	ENSP00000327145.8:p.Leu2645Pro
ENST00000346177.6:c.7835T>C (FLNC)	ENSP00000344002.6:p.Leu2612Pro
NM_001127487.1:c.7835T>C (FLNC)	NP_001120959.1:p.Leu2612Pro
NM_001458.4:c.7934T>C , LRG_870t1:c.7934T>C (FLNC)	NP_001449.3:p.Leu2645Pro
NR_149055.1:n.102+4364A>G (FLNC-AS1)
NM_001127487.2:c.7835T>C (FLNC)	NP_001120959.1:p.Leu2612Pro
NM_001458.5:c.7934T>C (FLNC) MANE Select	NP_001449.3:p.Leu2645Pro