Canonical Allele Identifier: CA369226597

Gene: FLNC

Linked Data

• ClinVar Variation Id: 539354
• ClinVar RCV Id: RCV000649082
• dbSNP Id: rs199976790
• MyVariant Identifiers: chr7:g.128480657C>A (hg19) ; chr7:g.128840603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128840603C>A , CM000669.2:g.128840603C>A	GRCh38
NC_000007.13:g.128480657C>A , CM000669.1:g.128480657C>A	GRCh37
NC_000007.12:g.128267893C>A	NCBI36
NG_011807.1:g.15175C>A , LRG_870:g.15175C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.1605C>A MANE Select	ENSP00000327145.8:p.Cys535Ter
ENST00000325888.12:c.1605C>A	ENSP00000327145.8:p.Cys535Ter
ENST00000346177.6:c.1605C>A	ENSP00000344002.6:p.Cys535Ter
NM_001127487.1:c.1605C>A	NP_001120959.1:p.Cys535Ter
NM_001458.4:c.1605C>A , LRG_870t1:c.1605C>A	NP_001449.3:p.Cys535Ter
NM_001127487.2:c.1605C>A	NP_001120959.1:p.Cys535Ter
NM_001458.5:c.1605C>A MANE Select	NP_001449.3:p.Cys535Ter