Canonical Allele Identifier: CA457582876

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1604074
• ClinVar RCV Id: RCV002149390
• dbSNP Id: rs1335788654
• COSMIC: COSM311227
• MyVariant Identifiers: chr7:g.128480201G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128840147G>C , CM000669.2:g.128840147G>C	GRCh38
NC_000007.13:g.128480201G>C , CM000669.1:g.128480201G>C	GRCh37
NC_000007.12:g.128267437G>C	NCBI36
NG_011807.1:g.14719G>C , LRG_870:g.14719G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.1536G>C MANE Select	ENSP00000327145.8:p.Thr512=
ENST00000325888.12:c.1536G>C	ENSP00000327145.8:p.Thr512=
ENST00000346177.6:c.1536G>C	ENSP00000344002.6:p.Thr512=
NM_001127487.1:c.1536G>C	NP_001120959.1:p.Thr512=
NM_001458.4:c.1536G>C , LRG_870t1:c.1536G>C	NP_001449.3:p.Thr512=
NM_001127487.2:c.1536G>C	NP_001120959.1:p.Thr512=
NM_001458.5:c.1536G>C MANE Select	NP_001449.3:p.Thr512=