Canonical Allele Identifier: CA369221837

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1723749
• ClinVar RCV Id: RCV002306310
• MyVariant Identifiers: chr7:g.128477453T>G (hg19) ; chr7:g.128837399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128837399T>G , CM000669.2:g.128837399T>G	GRCh38
NC_000007.13:g.128477453T>G , CM000669.1:g.128477453T>G	GRCh37
NC_000007.12:g.128264689T>G	NCBI36
NG_011807.1:g.11971T>G , LRG_870:g.11971T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.701T>G MANE Select	ENSP00000327145.8:p.Val234Gly
ENST00000325888.12:c.701T>G	ENSP00000327145.8:p.Val234Gly
ENST00000346177.6:c.701T>G	ENSP00000344002.6:p.Val234Gly
NM_001127487.1:c.701T>G	NP_001120959.1:p.Val234Gly
NM_001458.4:c.701T>G , LRG_870t1:c.701T>G	NP_001449.3:p.Val234Gly
NM_001127487.2:c.701T>G	NP_001120959.1:p.Val234Gly
NM_001458.5:c.701T>G MANE Select	NP_001449.3:p.Val234Gly