Canonical Allele Identifier: CA369192389
Gene: FLNC HGNC NCBI

Linked Data

gnomAD v4: 7-128843269-C-T
MyVariant Identifiers: chr7:g.128483323C>T (hg19) chr7:g.128843269C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128843269C>T , CM000669.2:g.128843269C>T GRCh38
NC_000007.13:g.128483323C>T , CM000669.1:g.128483323C>T GRCh37
NC_000007.12:g.128270559C>T NCBI36
NG_011807.1:g.17841C>T , LRG_870:g.17841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.2591C>T MANE Select ENSP00000327145.8:p.Ser864Phe
ENST00000325888.12:c.2591C>T ENSP00000327145.8:p.Ser864Phe
ENST00000346177.6:c.2591C>T ENSP00000344002.6:p.Ser864Phe
NM_001127487.1:c.2591C>T NP_001120959.1:p.Ser864Phe
NM_001458.4:c.2591C>T , LRG_870t1:c.2591C>T NP_001449.3:p.Ser864Phe
NM_001127487.2:c.2591C>T NP_001120959.1:p.Ser864Phe
NM_001458.5:c.2591C>T MANE Select NP_001449.3:p.Ser864Phe
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