Canonical Allele Identifier: CA4475307
Gene: FLNC HGNC NCBI

Linked Data

dbSNP Id: rs753604307
ExAC: 7:128487759 T / C
gnomAD v2: 7-128487759-T-C
gnomAD v4: 7-128847705-T-C
MyVariant Identifiers: chr7:g.128487759T>C (hg19) chr7:g.128847705T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847705T>C , CM000669.2:g.128847705T>C GRCh38
NC_000007.13:g.128487759T>C , CM000669.1:g.128487759T>C GRCh37
NC_000007.12:g.128274995T>C NCBI36
NG_011807.1:g.22277T>C , LRG_870:g.22277T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4297T>C MANE Select ENSP00000327145.8:p.Phe1433Leu
ENST00000325888.12:c.4297T>C ENSP00000327145.8:p.Phe1433Leu
ENST00000346177.6:c.4297T>C ENSP00000344002.6:p.Phe1433Leu
NM_001127487.1:c.4297T>C NP_001120959.1:p.Phe1433Leu
NM_001458.4:c.4297T>C , LRG_870t1:c.4297T>C NP_001449.3:p.Phe1433Leu
NM_001127487.2:c.4297T>C NP_001120959.1:p.Phe1433Leu
NM_001458.5:c.4297T>C MANE Select NP_001449.3:p.Phe1433Leu
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