Canonical Allele Identifier: CA152884

Gene: FLNC

Linked Data

• ClinVar Variation Id: 129099
• ClinVar RCV Id: RCV000117084 ; RCV000711695 ; RCV001510684 ; RCV002415598
• dbSNP Id: rs2291561
• ExAC: 7:128477547 T / C
• gnomAD v2: 7-128477547-T-C
• gnomAD v3: 7-128837493-T-C
• gnomAD v4: 7-128837493-T-C
• MyVariant Identifiers: chr7:g.128477547T>C (hg19) ; chr7:g.128837493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128837493T>C , CM000669.2:g.128837493T>C	GRCh38
NC_000007.13:g.128477547T>C , CM000669.1:g.128477547T>C	GRCh37
NC_000007.12:g.128264783T>C	NCBI36
NG_011807.1:g.12065T>C , LRG_870:g.12065T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.795T>C MANE Select	ENSP00000327145.8:p.Gly265=
ENST00000325888.12:c.795T>C	ENSP00000327145.8:p.Gly265=
ENST00000346177.6:c.795T>C	ENSP00000344002.6:p.Gly265=
NM_001127487.1:c.795T>C	NP_001120959.1:p.Gly265=
NM_001458.4:c.795T>C , LRG_870t1:c.795T>C	NP_001449.3:p.Gly265=
NM_001127487.2:c.795T>C	NP_001120959.1:p.Gly265=
NM_001458.5:c.795T>C MANE Select	NP_001449.3:p.Gly265=