Canonical Allele Identifier: CA2740097532

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2953933
• ClinVar RCV Id: RCV003813156

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128835393del , CM000669.2:g.128835393del	GRCh38
NC_000007.13:g.128475447del , CM000669.1:g.128475447del	GRCh37
NC_000007.12:g.128262683del	NCBI36
NG_011807.1:g.9965del , LRG_870:g.9965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.420del MANE Select	ENSP00000327145.8:p.Tyr141ThrfsTer?
ENST00000325888.12:c.420del	ENSP00000327145.8:p.Tyr141ThrfsTer?
ENST00000346177.6:c.420del	ENSP00000344002.6:p.Tyr141ThrfsTer?
NM_001127487.1:c.420del	NP_001120959.1:p.Tyr141ThrfsTer?
NM_001458.4:c.420del , LRG_870t1:c.420del	NP_001449.3:p.Tyr141ThrfsTer?
NM_001127487.2:c.420del	NP_001120959.1:p.Tyr141ThrfsTer?
NM_001458.5:c.420del MANE Select	NP_001449.3:p.Tyr141ThrfsTer?