Canonical Allele Identifier: CA166217161
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1781630
ClinVar RCV Id: RCV002415047
dbSNP Id: rs940034440
gnomAD v2: 7-128481279-T-C
gnomAD v3: 7-128841225-T-C
gnomAD v4: 7-128841225-T-C
MyVariant Identifiers: chr7:g.128481279T>C (hg19) chr7:g.128841225T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841225T>C , CM000669.2:g.128841225T>C GRCh38
NC_000007.13:g.128481279T>C , CM000669.1:g.128481279T>C GRCh37
NC_000007.12:g.128268515T>C NCBI36
NG_011807.1:g.15797T>C , LRG_870:g.15797T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1869T>C MANE Select ENSP00000327145.8:p.Asp623=
ENST00000325888.12:c.1869T>C ENSP00000327145.8:p.Asp623=
ENST00000346177.6:c.1869T>C ENSP00000344002.6:p.Asp623=
NM_001127487.1:c.1869T>C NP_001120959.1:p.Asp623=
NM_001458.4:c.1869T>C , LRG_870t1:c.1869T>C NP_001449.3:p.Asp623=
NM_001127487.2:c.1869T>C NP_001120959.1:p.Asp623=
NM_001458.5:c.1869T>C MANE Select NP_001449.3:p.Asp623=
Search 100 bp 5'
Search 100 bp 3'