Canonical Allele Identifier: CA369197234
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 427928
ClinVar RCV Id: RCV000492004 RCV000538844 RCV000763162 RCV000987973 RCV001266689 RCV001556592 RCV001814165
dbSNP Id: rs1114167361
gnomAD v4: 7-128845022-C-T
COSMIC: COSM50674
MyVariant Identifiers: chr7:g.128485076C>T (hg19) chr7:g.128845022C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845022C>T , CM000669.2:g.128845022C>T GRCh38
NC_000007.13:g.128485076C>T , CM000669.1:g.128485076C>T GRCh37
NC_000007.12:g.128272312C>T NCBI36
NG_011807.1:g.19594C>T , LRG_870:g.19594C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.3557C>T MANE Select ENSP00000327145.8:p.Ala1186Val
ENST00000325888.12:c.3557C>T ENSP00000327145.8:p.Ala1186Val
ENST00000346177.6:c.3557C>T ENSP00000344002.6:p.Ala1186Val
NM_001127487.1:c.3557C>T NP_001120959.1:p.Ala1186Val
NM_001458.4:c.3557C>T , LRG_870t1:c.3557C>T NP_001449.3:p.Ala1186Val
NM_001127487.2:c.3557C>T NP_001120959.1:p.Ala1186Val
NM_001458.5:c.3557C>T MANE Select NP_001449.3:p.Ala1186Val
Search 100 bp 5'
Search 100 bp 3'