Canonical Allele Identifier: CA4474237
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1919367
ClinVar RCV Id: RCV002594785
dbSNP Id: rs754733061
ExAC: 7:128478379 G / T
gnomAD v2: 7-128478379-G-T
gnomAD v4: 7-128838325-G-T
MyVariant Identifiers: chr7:g.128478379G>T (hg19) chr7:g.128838325G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128838325G>T , CM000669.2:g.128838325G>T GRCh38
NC_000007.13:g.128478379G>T , CM000669.1:g.128478379G>T GRCh37
NC_000007.12:g.128265615G>T NCBI36
NG_011807.1:g.12897G>T , LRG_870:g.12897G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.1106G>T MANE Select ENSP00000327145.8:p.Gly369Val
ENST00000325888.12:c.1106G>T ENSP00000327145.8:p.Gly369Val
ENST00000346177.6:c.1106G>T ENSP00000344002.6:p.Gly369Val
NM_001127487.1:c.1106G>T NP_001120959.1:p.Gly369Val
NM_001458.4:c.1106G>T , LRG_870t1:c.1106G>T NP_001449.3:p.Gly369Val
NM_001127487.2:c.1106G>T NP_001120959.1:p.Gly369Val
NM_001458.5:c.1106G>T MANE Select NP_001449.3:p.Gly369Val
Search 100 bp 5'
Search 100 bp 3'