Canonical Allele Identifier: CA4475609

Gene: FLNC

Linked Data

• ClinVar Variation Id: 472094
• ClinVar RCV Id: RCV000548109 ; RCV001755876 ; RCV002350342 ; RCV002483475
• dbSNP Id: rs745650222
• ExAC: 7:128490046 C / T
• gnomAD v2: 7-128490046-C-T
• gnomAD v3: 7-128849992-C-T
• gnomAD v4: 7-128849992-C-T
• MyVariant Identifiers: chr7:g.128490046C>T (hg19) ; chr7:g.128849992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128849992C>T , CM000669.2:g.128849992C>T	GRCh38
NC_000007.13:g.128490046C>T , CM000669.1:g.128490046C>T	GRCh37
NC_000007.12:g.128277282C>T	NCBI36
NG_011807.1:g.24564C>T , LRG_870:g.24564C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.5216C>T MANE Select	ENSP00000327145.8:p.Pro1739Leu
ENST00000325888.12:c.5216C>T	ENSP00000327145.8:p.Pro1739Leu
ENST00000346177.6:c.5200-392C>T	ENSP00000344002.6:n.5200-392C>T
NM_001127487.1:c.5200-392C>T	NP_001120959.1:n.5200-392C>T
NM_001458.4:c.5216C>T , LRG_870t1:c.5216C>T	NP_001449.3:p.Pro1739Leu
NM_001127487.2:c.5200-392C>T	NP_001120959.1:n.5200-392C>T
NM_001458.5:c.5216C>T MANE Select	NP_001449.3:p.Pro1739Leu