Canonical Allele Identifier: CA4474879

Gene: FLNC

Linked Data

• ClinVar Variation Id: 472020
• ClinVar RCV Id: RCV001584312 ; RCV001700413 ; RCV002438464 ; RCV003486877
• dbSNP Id: rs547060988
• ExAC: 7:128483879 C / T
• gnomAD v2: 7-128483879-C-T
• gnomAD v3: 7-128843825-C-T
• gnomAD v4: 7-128843825-C-T
• COSMIC: COSM2769358
• MyVariant Identifiers: chr7:g.128483879C>T (hg19) ; chr7:g.128843825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128843825C>T , CM000669.2:g.128843825C>T	GRCh38
NC_000007.13:g.128483879C>T , CM000669.1:g.128483879C>T	GRCh37
NC_000007.12:g.128271115C>T	NCBI36
NG_011807.1:g.18397C>T , LRG_870:g.18397C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.2841C>T MANE Select	ENSP00000327145.8:p.Gly947=
ENST00000325888.12:c.2841C>T	ENSP00000327145.8:p.Gly947=
ENST00000346177.6:c.2841C>T	ENSP00000344002.6:p.Gly947=
NM_001127487.1:c.2841C>T	NP_001120959.1:p.Gly947=
NM_001458.4:c.2841C>T , LRG_870t1:c.2841C>T	NP_001449.3:p.Gly947=
NM_001127487.2:c.2841C>T	NP_001120959.1:p.Gly947=
NM_001458.5:c.2841C>T MANE Select	NP_001449.3:p.Gly947=