Canonical Allele Identifier: CA166212621

Gene: FLNC

Linked Data

• ClinVar Variation Id: 679403
• ClinVar RCV Id: RCV000839054
• dbSNP Id: rs138755199
• gnomAD v2: 7-128475236-G-A
• gnomAD v3: 7-128835182-G-A
• gnomAD v4: 7-128835182-G-A
• MyVariant Identifiers: chr7:g.128475236G>A (hg19) ; chr7:g.128835182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128835182G>A , CM000669.2:g.128835182G>A	GRCh38
NC_000007.13:g.128475236G>A , CM000669.1:g.128475236G>A	GRCh37
NC_000007.12:g.128262472G>A	NCBI36
NG_011807.1:g.9754G>A , LRG_870:g.9754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.353-144G>A MANE Select	ENSP00000327145.8:n.353-144G>A
ENST00000325888.12:c.353-144G>A	ENSP00000327145.8:n.353-144G>A
ENST00000346177.6:c.353-144G>A	ENSP00000344002.6:n.353-144G>A
NM_001127487.1:c.353-144G>A	NP_001120959.1:n.353-144G>A
NM_001458.4:c.353-144G>A , LRG_870t1:c.353-144G>A	NP_001449.3:n.353-144G>A
NM_001127487.2:c.353-144G>A	NP_001120959.1:n.353-144G>A
NM_001458.5:c.353-144G>A MANE Select	NP_001449.3:n.353-144G>A