Canonical Allele Identifier: CA369196915
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1948299
ClinVar RCV Id: RCV002685721

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844908C>G , CM000669.2:g.128844908C>G GRCh38
NC_000007.13:g.128484962C>G , CM000669.1:g.128484962C>G GRCh37
NC_000007.12:g.128272198C>G NCBI36
NG_011807.1:g.19480C>G , LRG_870:g.19480C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3443C>G MANE Select ENSP00000327145.8:p.Thr1148Ser
ENST00000325888.12:c.3443C>G ENSP00000327145.8:p.Thr1148Ser
ENST00000346177.6:c.3443C>G ENSP00000344002.6:p.Thr1148Ser
NM_001127487.1:c.3443C>G NP_001120959.1:p.Thr1148Ser
NM_001458.4:c.3443C>G , LRG_870t1:c.3443C>G NP_001449.3:p.Thr1148Ser
NM_001127487.2:c.3443C>G NP_001120959.1:p.Thr1148Ser
NM_001458.5:c.3443C>G MANE Select NP_001449.3:p.Thr1148Ser