Canonical Allele Identifier: CA369227405

Gene: FLNC

Linked Data

• gnomAD v4: 7-128841293-A-T
• MyVariant Identifiers: chr7:g.128481347A>T (hg19) ; chr7:g.128841293A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128841293A>T , CM000669.2:g.128841293A>T	GRCh38
NC_000007.13:g.128481347A>T , CM000669.1:g.128481347A>T	GRCh37
NC_000007.12:g.128268583A>T	NCBI36
NG_011807.1:g.15865A>T , LRG_870:g.15865A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1937A>T MANE Select	ENSP00000327145.8:p.Asp646Val
ENST00000325888.12:c.1937A>T	ENSP00000327145.8:p.Asp646Val
ENST00000346177.6:c.1937A>T	ENSP00000344002.6:p.Asp646Val
NM_001127487.1:c.1937A>T	NP_001120959.1:p.Asp646Val
NM_001458.4:c.1937A>T , LRG_870t1:c.1937A>T	NP_001449.3:p.Asp646Val
NM_001127487.2:c.1937A>T	NP_001120959.1:p.Asp646Val
NM_001458.5:c.1937A>T MANE Select	NP_001449.3:p.Asp646Val