Canonical Allele Identifier: CA457846547

Gene: FLNC

Linked Data

• ClinVar Variation Id: 539494
• ClinVar RCV Id: RCV000649235
• dbSNP Id: rs1554398303
• MyVariant Identifiers: chr7:g.128481021C>T (hg19) ; chr7:g.128840967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128840967C>T , CM000669.2:g.128840967C>T	GRCh38
NC_000007.13:g.128481021C>T , CM000669.1:g.128481021C>T	GRCh37
NC_000007.12:g.128268257C>T	NCBI36
NG_011807.1:g.15539C>T , LRG_870:g.15539C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1810C>T MANE Select	ENSP00000327145.8:p.Leu604=
ENST00000325888.12:c.1810C>T	ENSP00000327145.8:p.Leu604=
ENST00000346177.6:c.1810C>T	ENSP00000344002.6:p.Leu604=
NM_001127487.1:c.1810C>T	NP_001120959.1:p.Leu604=
NM_001458.4:c.1810C>T , LRG_870t1:c.1810C>T	NP_001449.3:p.Leu604=
NM_001127487.2:c.1810C>T	NP_001120959.1:p.Leu604=
NM_001458.5:c.1810C>T MANE Select	NP_001449.3:p.Leu604=