Canonical Allele Identifier: CA369218609
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2950935
ClinVar RCV Id: RCV003802197
MyVariant Identifiers: chr7:g.128475398A>C (hg19) chr7:g.128835344A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128835344A>C , CM000669.2:g.128835344A>C GRCh38
NC_000007.13:g.128475398A>C , CM000669.1:g.128475398A>C GRCh37
NC_000007.12:g.128262634A>C NCBI36
NG_011807.1:g.9916A>C , LRG_870:g.9916A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.371A>C MANE Select ENSP00000327145.8:p.Asp124Ala
ENST00000325888.12:c.371A>C ENSP00000327145.8:p.Asp124Ala
ENST00000346177.6:c.371A>C ENSP00000344002.6:p.Asp124Ala
NM_001127487.1:c.371A>C NP_001120959.1:p.Asp124Ala
NM_001458.4:c.371A>C , LRG_870t1:c.371A>C NP_001449.3:p.Asp124Ala
NM_001127487.2:c.371A>C NP_001120959.1:p.Asp124Ala
NM_001458.5:c.371A>C MANE Select NP_001449.3:p.Asp124Ala
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