Canonical Allele Identifier: CA4475618

Gene: FLNC

Linked Data

• ClinVar Variation Id: 472092
• ClinVar RCV Id: RCV000560150
• dbSNP Id: rs369165766
• ExAC: 7:128490092 C / T
• gnomAD v2: 7-128490092-C-T
• gnomAD v3: 7-128850038-C-T
• gnomAD v4: 7-128850038-C-T
• MyVariant Identifiers: chr7:g.128490092C>T (hg19) ; chr7:g.128850038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128850038C>T , CM000669.2:g.128850038C>T	GRCh38
NC_000007.13:g.128490092C>T , CM000669.1:g.128490092C>T	GRCh37
NC_000007.12:g.128277328C>T	NCBI36
NG_011807.1:g.24610C>T , LRG_870:g.24610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.5262C>T MANE Select	ENSP00000327145.8:p.Tyr1754=
ENST00000325888.12:c.5262C>T	ENSP00000327145.8:p.Tyr1754=
ENST00000346177.6:c.5200-346C>T	ENSP00000344002.6:n.5200-346C>T
NM_001127487.1:c.5200-346C>T	NP_001120959.1:n.5200-346C>T
NM_001458.4:c.5262C>T , LRG_870t1:c.5262C>T	NP_001449.3:p.Tyr1754=
NM_001127487.2:c.5200-346C>T	NP_001120959.1:n.5200-346C>T
NM_001458.5:c.5262C>T MANE Select	NP_001449.3:p.Tyr1754=