Canonical Allele Identifier: CA369197816
Gene: FLNC HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128485234C>A (hg19) chr7:g.128845180C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845180C>A , CM000669.2:g.128845180C>A GRCh38
NC_000007.13:g.128485234C>A , CM000669.1:g.128485234C>A GRCh37
NC_000007.12:g.128272470C>A NCBI36
NG_011807.1:g.19752C>A , LRG_870:g.19752C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3715C>A MANE Select ENSP00000327145.8:p.Pro1239Thr
ENST00000325888.12:c.3715C>A ENSP00000327145.8:p.Pro1239Thr
ENST00000346177.6:c.3715C>A ENSP00000344002.6:p.Pro1239Thr
NM_001127487.1:c.3715C>A NP_001120959.1:p.Pro1239Thr
NM_001458.4:c.3715C>A , LRG_870t1:c.3715C>A NP_001449.3:p.Pro1239Thr
NM_001127487.2:c.3715C>A NP_001120959.1:p.Pro1239Thr
NM_001458.5:c.3715C>A MANE Select NP_001449.3:p.Pro1239Thr
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