Canonical Allele Identifier: CA4475086

Gene: FLNC

Linked Data

• ClinVar Variation Id: 392044
• ClinVar RCV Id: RCV000421795 ; RCV000544773 ; RCV001698337 ; RCV002451049 ; RCV003486843 ; RCV003899896
• dbSNP Id: rs117864464
• ExAC: 7:128485140 C / T
• gnomAD v2: 7-128485140-C-T
• gnomAD v3: 7-128845086-C-T
• gnomAD v4: 7-128845086-C-T
• MyVariant Identifiers: chr7:g.128485140C>T (hg19) ; chr7:g.128845086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128845086C>T , CM000669.2:g.128845086C>T	GRCh38
NC_000007.13:g.128485140C>T , CM000669.1:g.128485140C>T	GRCh37
NC_000007.12:g.128272376C>T	NCBI36
NG_011807.1:g.19658C>T , LRG_870:g.19658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.3621C>T MANE Select	ENSP00000327145.8:p.Asn1207=
ENST00000325888.12:c.3621C>T	ENSP00000327145.8:p.Asn1207=
ENST00000346177.6:c.3621C>T	ENSP00000344002.6:p.Asn1207=
NM_001127487.1:c.3621C>T	NP_001120959.1:p.Asn1207=
NM_001458.4:c.3621C>T , LRG_870t1:c.3621C>T	NP_001449.3:p.Asn1207=
NM_001127487.2:c.3621C>T	NP_001120959.1:p.Asn1207=
NM_001458.5:c.3621C>T MANE Select	NP_001449.3:p.Asn1207=