Canonical Allele Identifier: CA4475105
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1011887
ClinVar RCV Id: RCV001309759 RCV001548025 RCV002350563
dbSNP Id: rs777798089
ExAC: 7:128485232 T / C
gnomAD v2: 7-128485232-T-C
gnomAD v3: 7-128845178-T-C
gnomAD v4: 7-128845178-T-C
MyVariant Identifiers: chr7:g.128485232T>C (hg19) chr7:g.128845178T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845178T>C , CM000669.2:g.128845178T>C GRCh38
NC_000007.13:g.128485232T>C , CM000669.1:g.128485232T>C GRCh37
NC_000007.12:g.128272468T>C NCBI36
NG_011807.1:g.19750T>C , LRG_870:g.19750T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3713T>C MANE Select ENSP00000327145.8:p.Phe1238Ser
ENST00000325888.12:c.3713T>C ENSP00000327145.8:p.Phe1238Ser
ENST00000346177.6:c.3713T>C ENSP00000344002.6:p.Phe1238Ser
NM_001127487.1:c.3713T>C NP_001120959.1:p.Phe1238Ser
NM_001458.4:c.3713T>C , LRG_870t1:c.3713T>C NP_001449.3:p.Phe1238Ser
NM_001127487.2:c.3713T>C NP_001120959.1:p.Phe1238Ser
NM_001458.5:c.3713T>C MANE Select NP_001449.3:p.Phe1238Ser
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