Canonical Allele Identifier: CA4475137
Gene: FLNC HGNC NCBI

Linked Data

dbSNP Id: rs750562369
ExAC: 7:128486019 T / TG
gnomAD v2: 7-128486019-T-TG
gnomAD v4: 7-128845965-T-TG
MyVariant Identifiers: chr7:g.128486019_128486020insG (hg19) chr7:g.128845965_128845966insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845966dup , CM000669.2:g.128845966dup GRCh38
NC_000007.13:g.128486020dup , CM000669.1:g.128486020dup GRCh37
NC_000007.12:g.128273256dup NCBI36
NG_011807.1:g.20538dup , LRG_870:g.20538dup

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.3791-24dup MANE Select ENSP00000327145.8:n.3791-24dup
ENST00000325888.12:c.3791-24dup ENSP00000327145.8:n.3791-24dup
ENST00000346177.6:c.3791-24dup ENSP00000344002.6:n.3791-24dup
NM_001127487.1:c.3791-24dup NP_001120959.1:n.3791-24dup
NM_001458.4:c.3791-24dup , LRG_870t1:c.3791-24dup NP_001449.3:n.3791-24dup
NM_001127487.2:c.3791-24dup NP_001120959.1:n.3791-24dup
NM_001458.5:c.3791-24dup MANE Select NP_001449.3:n.3791-24dup
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Search 100 bp 3'