Canonical Allele Identifier: CA4473994
Gene: FLNC HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.128830955C>G
GRCh38 chr7:g.128830955_128830957delinsGCT
GRCh37 chr7:g.128471009C>G
GRCh37 chr7:g.128471009_128471011delinsGCT
Revel Score:
ENST00000325888 (MANE Select) 0.846
ENST00000346177 0.846
gnomAD v2:
7:128471009 C / G
gnomAD v3:
7:128830955 C / G
gnomAD v4:
chr7-128830955-C-G
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 0.00000194 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128830955C>G , CM000669.2:g.128830955C>G GRCh38
NC_000007.13:g.128471009C>G , CM000669.1:g.128471009C>G GRCh37
NC_000007.12:g.128258245C>G NCBI36
NG_011807.1:g.5527C>G , LRG_870:g.5527C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.318C>G MANE Select ENSP00000327145.8:p.Phe106Leu
ENST00000325888.12:c.318C>G ENSP00000327145.8:p.Phe106Leu
ENST00000346177.6:c.318C>G ENSP00000344002.6:p.Phe106Leu
NM_001127487.1:c.318C>G NP_001120959.1:p.Phe106Leu
NM_001458.4:c.318C>G , LRG_870t1:c.318C>G NP_001449.3:p.Phe106Leu
NM_001127487.2:c.318C>G NP_001120959.1:p.Phe106Leu
NM_001458.5:c.318C>G MANE Select NP_001449.3:p.Phe106Leu
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