Canonical Allele Identifier: CA369201931

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2945256
• ClinVar RCV Id: RCV003800910
• MyVariant Identifiers: chr7:g.128488061C>G (hg19) ; chr7:g.128848007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128848007C>G , CM000669.2:g.128848007C>G	GRCh38
NC_000007.13:g.128488061C>G , CM000669.1:g.128488061C>G	GRCh37
NC_000007.12:g.128275297C>G	NCBI36
NG_011807.1:g.22579C>G , LRG_870:g.22579C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.4519C>G MANE Select	ENSP00000327145.8:p.Pro1507Ala
ENST00000325888.12:c.4519C>G	ENSP00000327145.8:p.Pro1507Ala
ENST00000346177.6:c.4519C>G	ENSP00000344002.6:p.Pro1507Ala
NM_001127487.1:c.4519C>G	NP_001120959.1:p.Pro1507Ala
NM_001458.4:c.4519C>G , LRG_870t1:c.4519C>G	NP_001449.3:p.Pro1507Ala
NM_001127487.2:c.4519C>G	NP_001120959.1:p.Pro1507Ala
NM_001458.5:c.4519C>G MANE Select	NP_001449.3:p.Pro1507Ala