Canonical Allele Identifier: CA4474486

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2165409
• ClinVar RCV Id: RCV003084355
• dbSNP Id: rs753717377
• ExAC: 7:128481041 CAGG / C
• gnomAD v2: 7-128481041-CAGG-C
• gnomAD v4: 7-128840987-CAGG-C
• MyVariant Identifiers: chr7:g.128481042_128481044del (hg19) ; chr7:g.128840988_128840990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128840994_128840996del , CM000669.2:g.128840994_128840996del	GRCh38
NC_000007.13:g.128481048_128481050del , CM000669.1:g.128481048_128481050del	GRCh37
NC_000007.12:g.128268284_128268286del	NCBI36
NG_011807.1:g.15566_15568del , LRG_870:g.15566_15568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1813+24_1813+26del MANE Select	ENSP00000327145.8:n.1813+24_1813+26del
ENST00000325888.12:c.1813+24_1813+26del	ENSP00000327145.8:n.1813+24_1813+26del
ENST00000346177.6:c.1813+24_1813+26del	ENSP00000344002.6:n.1813+24_1813+26del
NM_001127487.1:c.1813+24_1813+26del	NP_001120959.1:n.1813+24_1813+26del
NM_001458.4:c.1813+24_1813+26del , LRG_870t1:c.1813+24_1813+26del	NP_001449.3:n.1813+24_1813+26del
NM_001127487.2:c.1813+24_1813+26del	NP_001120959.1:n.1813+24_1813+26del
NM_001458.5:c.1813+24_1813+26del MANE Select	NP_001449.3:n.1813+24_1813+26del