Canonical Allele Identifier: CA457848694

Gene: FLNC

Linked Data

• dbSNP Id: rs1280819940
• gnomAD v2: 7-128488063-A-C
• gnomAD v4: 7-128848009-A-C
• MyVariant Identifiers: chr7:g.128488063A>C (hg19) ; chr7:g.128848009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128848009A>C , CM000669.2:g.128848009A>C	GRCh38
NC_000007.13:g.128488063A>C , CM000669.1:g.128488063A>C	GRCh37
NC_000007.12:g.128275299A>C	NCBI36
NG_011807.1:g.22581A>C , LRG_870:g.22581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.4521A>C MANE Select	ENSP00000327145.8:p.Pro1507=
ENST00000325888.12:c.4521A>C	ENSP00000327145.8:p.Pro1507=
ENST00000346177.6:c.4521A>C	ENSP00000344002.6:p.Pro1507=
NM_001127487.1:c.4521A>C	NP_001120959.1:p.Pro1507=
NM_001458.4:c.4521A>C , LRG_870t1:c.4521A>C	NP_001449.3:p.Pro1507=
NM_001127487.2:c.4521A>C	NP_001120959.1:p.Pro1507=
NM_001458.5:c.4521A>C MANE Select	NP_001449.3:p.Pro1507=