Canonical Allele Identifier: CA4474835

Gene: FLNC

Linked Data

• ClinVar Variation Id: 570761
• ClinVar RCV Id: RCV000691700 ; RCV001547807 ; RCV002440451 ; RCV003892540
• dbSNP Id: rs143720860
• ExAC: 7:128483567 G / A
• gnomAD v2: 7-128483567-G-A
• gnomAD v3: 7-128843513-G-A
• gnomAD v4: 7-128843513-G-A
• MyVariant Identifiers: chr7:g.128483567G>A (hg19) ; chr7:g.128843513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128843513G>A , CM000669.2:g.128843513G>A	GRCh38
NC_000007.13:g.128483567G>A , CM000669.1:g.128483567G>A	GRCh37
NC_000007.12:g.128270803G>A	NCBI36
NG_011807.1:g.18085G>A , LRG_870:g.18085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.2747G>A MANE Select	ENSP00000327145.8:p.Arg916Gln
ENST00000325888.12:c.2747G>A	ENSP00000327145.8:p.Arg916Gln
ENST00000346177.6:c.2747G>A	ENSP00000344002.6:p.Arg916Gln
NM_001127487.1:c.2747G>A	NP_001120959.1:p.Arg916Gln
NM_001458.4:c.2747G>A , LRG_870t1:c.2747G>A	NP_001449.3:p.Arg916Gln
NM_001127487.2:c.2747G>A	NP_001120959.1:p.Arg916Gln
NM_001458.5:c.2747G>A MANE Select	NP_001449.3:p.Arg916Gln