Canonical Allele Identifier: CA4474717

Gene: FLNC

Linked Data

• dbSNP Id: rs374233889
• ExAC: 7:128482836 G / C
• gnomAD v2: 7-128482836-G-C
• gnomAD v4: 7-128842782-G-C
• MyVariant Identifiers: chr7:g.128482836G>C (hg19) ; chr7:g.128842782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128842782G>C , CM000669.2:g.128842782G>C	GRCh38
NC_000007.13:g.128482836G>C , CM000669.1:g.128482836G>C	GRCh37
NC_000007.12:g.128270072G>C	NCBI36
NG_011807.1:g.17354G>C , LRG_870:g.17354G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.2390-12G>C MANE Select	ENSP00000327145.8:n.2390-12G>C
ENST00000325888.12:c.2390-12G>C	ENSP00000327145.8:n.2390-12G>C
ENST00000346177.6:c.2390-12G>C	ENSP00000344002.6:n.2390-12G>C
ENST00000388853.3:n.506-12G>C
NM_001127487.1:c.2390-12G>C	NP_001120959.1:n.2390-12G>C
NM_001458.4:c.2390-12G>C , LRG_870t1:c.2390-12G>C	NP_001449.3:n.2390-12G>C
NM_001127487.2:c.2390-12G>C	NP_001120959.1:n.2390-12G>C
NM_001458.5:c.2390-12G>C MANE Select	NP_001449.3:n.2390-12G>C