Canonical Allele Identifier: CA4475027
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 569381
ClinVar RCV Id: RCV000689993 RCV002458223 RCV003150331
dbSNP Id: rs748785077
ExAC: 7:128484895 C / G
gnomAD v2: 7-128484895-C-G
gnomAD v4: 7-128844841-C-G
MyVariant Identifiers: chr7:g.128484895C>G (hg19) chr7:g.128844841C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844841C>G , CM000669.2:g.128844841C>G GRCh38
NC_000007.13:g.128484895C>G , CM000669.1:g.128484895C>G GRCh37
NC_000007.12:g.128272131C>G NCBI36
NG_011807.1:g.19413C>G , LRG_870:g.19413C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3376C>G MANE Select ENSP00000327145.8:p.Pro1126Ala
ENST00000325888.12:c.3376C>G ENSP00000327145.8:p.Pro1126Ala
ENST00000346177.6:c.3376C>G ENSP00000344002.6:p.Pro1126Ala
NM_001127487.1:c.3376C>G NP_001120959.1:p.Pro1126Ala
NM_001458.4:c.3376C>G , LRG_870t1:c.3376C>G NP_001449.3:p.Pro1126Ala
NM_001127487.2:c.3376C>G NP_001120959.1:p.Pro1126Ala
NM_001458.5:c.3376C>G MANE Select NP_001449.3:p.Pro1126Ala
Search 100 bp 5'
Search 100 bp 3'