Canonical Allele Identifier: CA4475021
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1488185
ClinVar RCV Id: RCV001976944 RCV002324452 RCV003146453
dbSNP Id: rs780461379
ExAC: 7:128484872 C / T
gnomAD v2: 7-128484872-C-T
gnomAD v3: 7-128844818-C-T
gnomAD v4: 7-128844818-C-T
MyVariant Identifiers: chr7:g.128484872C>T (hg19) chr7:g.128844818C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844818C>T , CM000669.2:g.128844818C>T GRCh38
NC_000007.13:g.128484872C>T , CM000669.1:g.128484872C>T GRCh37
NC_000007.12:g.128272108C>T NCBI36
NG_011807.1:g.19390C>T , LRG_870:g.19390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3353C>T MANE Select ENSP00000327145.8:p.Ala1118Val
ENST00000325888.12:c.3353C>T ENSP00000327145.8:p.Ala1118Val
ENST00000346177.6:c.3353C>T ENSP00000344002.6:p.Ala1118Val
NM_001127487.1:c.3353C>T NP_001120959.1:p.Ala1118Val
NM_001458.4:c.3353C>T , LRG_870t1:c.3353C>T NP_001449.3:p.Ala1118Val
NM_001127487.2:c.3353C>T NP_001120959.1:p.Ala1118Val
NM_001458.5:c.3353C>T MANE Select NP_001449.3:p.Ala1118Val
Search 100 bp 5'
Search 100 bp 3'