Canonical Allele Identifier: CA4474931

Gene: FLNC

Linked Data

• ClinVar Variation Id: 258139
• ClinVar RCV Id: RCV000249182 ; RCV000552303 ; RCV001640514 ; RCV002436082 ; RCV002494730
• dbSNP Id: rs184454068
• ExAC: 7:128484128 T / C
• gnomAD v2: 7-128484128-T-C
• gnomAD v3: 7-128844074-T-C
• gnomAD v4: 7-128844074-T-C
• MyVariant Identifiers: chr7:g.128484128T>C (hg19) ; chr7:g.128844074T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128844074T>C , CM000669.2:g.128844074T>C	GRCh38
NC_000007.13:g.128484128T>C , CM000669.1:g.128484128T>C	GRCh37
NC_000007.12:g.128271364T>C	NCBI36
NG_011807.1:g.18646T>C , LRG_870:g.18646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.3000T>C MANE Select	ENSP00000327145.8:p.Asp1000=
ENST00000325888.12:c.3000T>C	ENSP00000327145.8:p.Asp1000=
ENST00000346177.6:c.3000T>C	ENSP00000344002.6:p.Asp1000=
NM_001127487.1:c.3000T>C	NP_001120959.1:p.Asp1000=
NM_001458.4:c.3000T>C , LRG_870t1:c.3000T>C	NP_001449.3:p.Asp1000=
NM_001127487.2:c.3000T>C	NP_001120959.1:p.Asp1000=
NM_001458.5:c.3000T>C MANE Select	NP_001449.3:p.Asp1000=