Canonical Allele Identifier: CA457849020

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1598542
• ClinVar RCV Id: RCV002122608 ; RCV002337294
• dbSNP Id: rs370711488
• gnomAD v2: 7-128489434-G-T
• gnomAD v3: 7-128849380-G-T
• gnomAD v4: 7-128849380-G-T
• MyVariant Identifiers: chr7:g.128489434G>T (hg19) ; chr7:g.128849380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128849380G>T , CM000669.2:g.128849380G>T	GRCh38
NC_000007.13:g.128489434G>T , CM000669.1:g.128489434G>T	GRCh37
NC_000007.12:g.128276670G>T	NCBI36
NG_011807.1:g.23952G>T , LRG_870:g.23952G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.5001G>T MANE Select	ENSP00000327145.8:p.Thr1667=
ENST00000325888.12:c.5001G>T	ENSP00000327145.8:p.Thr1667=
ENST00000346177.6:c.5001G>T	ENSP00000344002.6:p.Thr1667=
NM_001127487.1:c.5001G>T	NP_001120959.1:p.Thr1667=
NM_001458.4:c.5001G>T , LRG_870t1:c.5001G>T	NP_001449.3:p.Thr1667=
NM_001127487.2:c.5001G>T	NP_001120959.1:p.Thr1667=
NM_001458.5:c.5001G>T MANE Select	NP_001449.3:p.Thr1667=