Canonical Allele Identifier: CA4474110
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 680424
ClinVar RCV Id: RCV000840213 RCV001395985 RCV003892764
dbSNP Id: rs745442558
ExAC: 7:128477447 C / T
gnomAD v2: 7-128477447-C-T
gnomAD v3: 7-128837393-C-T
gnomAD v4: 7-128837393-C-T
MyVariant Identifiers: chr7:g.128477447C>T (hg19) chr7:g.128837393C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128837393C>T , CM000669.2:g.128837393C>T GRCh38
NC_000007.13:g.128477447C>T , CM000669.1:g.128477447C>T GRCh37
NC_000007.12:g.128264683C>T NCBI36
NG_011807.1:g.11965C>T , LRG_870:g.11965C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.700-5C>T MANE Select ENSP00000327145.8:n.700-5C>T
ENST00000325888.12:c.700-5C>T ENSP00000327145.8:n.700-5C>T
ENST00000346177.6:c.700-5C>T ENSP00000344002.6:n.700-5C>T
NM_001127487.1:c.700-5C>T NP_001120959.1:n.700-5C>T
NM_001458.4:c.700-5C>T , LRG_870t1:c.700-5C>T NP_001449.3:n.700-5C>T
NM_001127487.2:c.700-5C>T NP_001120959.1:n.700-5C>T
NM_001458.5:c.700-5C>T MANE Select NP_001449.3:n.700-5C>T
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