Canonical Allele Identifier: CA2573052811

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1319904
• ClinVar RCV Id: RCV001771780 ; RCV002034498
• dbSNP Id: rs2128934193

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128837499del , CM000669.2:g.128837499del	GRCh38
NC_000007.13:g.128477553del , CM000669.1:g.128477553del	GRCh37
NC_000007.12:g.128264789del	NCBI36
NG_011807.1:g.12071del , LRG_870:g.12071del

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.801del MANE Select	ENSP00000327145.8:p.Val268PhefsTer6
ENST00000325888.12:c.801del	ENSP00000327145.8:p.Val268PhefsTer6
ENST00000346177.6:c.801del	ENSP00000344002.6:p.Val268PhefsTer6
NM_001127487.1:c.801del	NP_001120959.1:p.Val268PhefsTer6
NM_001458.4:c.801del , LRG_870t1:c.801del	NP_001449.3:p.Val268PhefsTer6
NM_001127487.2:c.801del	NP_001120959.1:p.Val268PhefsTer6
NM_001458.5:c.801del MANE Select	NP_001449.3:p.Val268PhefsTer6