Canonical Allele Identifier: CA369193323

Gene: FLNC

Linked Data

• dbSNP Id: rs1283989527
• gnomAD v2: 7-128483629-C-A
• gnomAD v4: 7-128843575-C-A
• MyVariant Identifiers: chr7:g.128483629C>A (hg19) ; chr7:g.128843575C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128843575C>A , CM000669.2:g.128843575C>A	GRCh38
NC_000007.13:g.128483629C>A , CM000669.1:g.128483629C>A	GRCh37
NC_000007.12:g.128270865C>A	NCBI36
NG_011807.1:g.18147C>A , LRG_870:g.18147C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.2809C>A MANE Select	ENSP00000327145.8:p.Gln937Lys
ENST00000325888.12:c.2809C>A	ENSP00000327145.8:p.Gln937Lys
ENST00000346177.6:c.2809C>A	ENSP00000344002.6:p.Gln937Lys
NM_001127487.1:c.2809C>A	NP_001120959.1:p.Gln937Lys
NM_001458.4:c.2809C>A , LRG_870t1:c.2809C>A	NP_001449.3:p.Gln937Lys
NM_001127487.2:c.2809C>A	NP_001120959.1:p.Gln937Lys
NM_001458.5:c.2809C>A MANE Select	NP_001449.3:p.Gln937Lys