Canonical Allele Identifier: CA4474512

Gene: FLNC

Linked Data

• ClinVar Variation Id: 775477
• ClinVar RCV Id: RCV000955637 ; RCV002409274 ; RCV003432961
• dbSNP Id: rs771403245
• ExAC: 7:128481243 C / T
• gnomAD v2: 7-128481243-C-T
• gnomAD v3: 7-128841189-C-T
• gnomAD v4: 7-128841189-C-T
• MyVariant Identifiers: chr7:g.128481243C>T (hg19) ; chr7:g.128841189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128841189C>T , CM000669.2:g.128841189C>T	GRCh38
NC_000007.13:g.128481243C>T , CM000669.1:g.128481243C>T	GRCh37
NC_000007.12:g.128268479C>T	NCBI36
NG_011807.1:g.15761C>T , LRG_870:g.15761C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.1833C>T MANE Select	ENSP00000327145.8:p.Pro611=
ENST00000325888.12:c.1833C>T	ENSP00000327145.8:p.Pro611=
ENST00000346177.6:c.1833C>T	ENSP00000344002.6:p.Pro611=
NM_001127487.1:c.1833C>T	NP_001120959.1:p.Pro611=
NM_001458.4:c.1833C>T , LRG_870t1:c.1833C>T	NP_001449.3:p.Pro611=
NM_001127487.2:c.1833C>T	NP_001120959.1:p.Pro611=
NM_001458.5:c.1833C>T MANE Select	NP_001449.3:p.Pro611=