Canonical Allele Identifier: CA457848199
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1658246
ClinVar RCV Id: RCV002171835
dbSNP Id: rs756592172
MyVariant Identifiers: chr7:g.128484858T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844804T>G , CM000669.2:g.128844804T>G GRCh38
NC_000007.13:g.128484858T>G , CM000669.1:g.128484858T>G GRCh37
NC_000007.12:g.128272094T>G NCBI36
NG_011807.1:g.19376T>G , LRG_870:g.19376T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3339T>G MANE Select ENSP00000327145.8:p.Gly1113=
ENST00000325888.12:c.3339T>G ENSP00000327145.8:p.Gly1113=
ENST00000346177.6:c.3339T>G ENSP00000344002.6:p.Gly1113=
NM_001127487.1:c.3339T>G NP_001120959.1:p.Gly1113=
NM_001458.4:c.3339T>G , LRG_870t1:c.3339T>G NP_001449.3:p.Gly1113=
NM_001127487.2:c.3339T>G NP_001120959.1:p.Gly1113=
NM_001458.5:c.3339T>G MANE Select NP_001449.3:p.Gly1113=