Canonical Allele Identifier: CA166176121

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1417994
• ClinVar RCV Id: RCV001930800
• dbSNP Id: rs111482519
• gnomAD v4: 7-128843233-T-C
• MyVariant Identifiers: chr7:g.128483287T>C (hg19) ; chr7:g.128843233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128843233T>C , CM000669.2:g.128843233T>C	GRCh38
NC_000007.13:g.128483287T>C , CM000669.1:g.128483287T>C	GRCh37
NC_000007.12:g.128270523T>C	NCBI36
NG_011807.1:g.17805T>C , LRG_870:g.17805T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.2555T>C MANE Select	ENSP00000327145.8:p.Ile852Thr
ENST00000325888.12:c.2555T>C	ENSP00000327145.8:p.Ile852Thr
ENST00000346177.6:c.2555T>C	ENSP00000344002.6:p.Ile852Thr
NM_001127487.1:c.2555T>C	NP_001120959.1:p.Ile852Thr
NM_001458.4:c.2555T>C , LRG_870t1:c.2555T>C	NP_001449.3:p.Ile852Thr
NM_001127487.2:c.2555T>C	NP_001120959.1:p.Ile852Thr
NM_001458.5:c.2555T>C MANE Select	NP_001449.3:p.Ile852Thr