Canonical Allele Identifier: CA4474467

Gene: FLNC

Linked Data

• ClinVar Variation Id: 471987
• ClinVar RCV Id: RCV000536394 ; RCV001662580 ; RCV002413596 ; RCV002483471
• dbSNP Id: rs374132023
• ExAC: 7:128480968 T / C
• gnomAD v2: 7-128480968-T-C
• gnomAD v3: 7-128840914-T-C
• gnomAD v4: 7-128840914-T-C
• MyVariant Identifiers: chr7:g.128480968T>C (hg19) ; chr7:g.128840914T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128840914T>C , CM000669.2:g.128840914T>C	GRCh38
NC_000007.13:g.128480968T>C , CM000669.1:g.128480968T>C	GRCh37
NC_000007.12:g.128268204T>C	NCBI36
NG_011807.1:g.15486T>C , LRG_870:g.15486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1757T>C MANE Select	ENSP00000327145.8:p.Val586Ala
ENST00000325888.12:c.1757T>C	ENSP00000327145.8:p.Val586Ala
ENST00000346177.6:c.1757T>C	ENSP00000344002.6:p.Val586Ala
NM_001127487.1:c.1757T>C	NP_001120959.1:p.Val586Ala
NM_001458.4:c.1757T>C , LRG_870t1:c.1757T>C	NP_001449.3:p.Val586Ala
NM_001127487.2:c.1757T>C	NP_001120959.1:p.Val586Ala
NM_001458.5:c.1757T>C MANE Select	NP_001449.3:p.Val586Ala