Canonical Allele Identifier: CA4474150

Gene: FLNC

Linked Data

• ClinVar Variation Id: 387492
• ClinVar RCV Id: RCV000430081 ; RCV000649265 ; RCV002446712
• dbSNP Id: rs758216356
• ExAC: 7:128477686 C / T
• gnomAD v2: 7-128477686-C-T
• gnomAD v3: 7-128837632-C-T
• gnomAD v4: 7-128837632-C-T
• MyVariant Identifiers: chr7:g.128477686C>T (hg19) ; chr7:g.128837632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128837632C>T , CM000669.2:g.128837632C>T	GRCh38
NC_000007.13:g.128477686C>T , CM000669.1:g.128477686C>T	GRCh37
NC_000007.12:g.128264922C>T	NCBI36
NG_011807.1:g.12204C>T , LRG_870:g.12204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.851-5C>T MANE Select	ENSP00000327145.8:n.851-5C>T
ENST00000325888.12:c.851-5C>T	ENSP00000327145.8:n.851-5C>T
ENST00000346177.6:c.851-5C>T	ENSP00000344002.6:n.851-5C>T
NM_001127487.1:c.851-5C>T	NP_001120959.1:n.851-5C>T
NM_001458.4:c.851-5C>T , LRG_870t1:c.851-5C>T	NP_001449.3:n.851-5C>T
NM_001127487.2:c.851-5C>T	NP_001120959.1:n.851-5C>T
NM_001458.5:c.851-5C>T MANE Select	NP_001449.3:n.851-5C>T