Canonical Allele Identifier: CA4475538
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 472083
ClinVar RCV Id: RCV000540351
dbSNP Id: rs753945728

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128849379C>T , CM000669.2:g.128849379C>T GRCh38
NC_000007.13:g.128489433C>T , CM000669.1:g.128489433C>T GRCh37
NC_000007.12:g.128276669C>T NCBI36
NG_011807.1:g.23951C>T , LRG_870:g.23951C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5000C>T MANE Select ENSP00000327145.8:p.Thr1667Met
ENST00000325888.12:c.5000C>T ENSP00000327145.8:p.Thr1667Met
ENST00000346177.6:c.5000C>T ENSP00000344002.6:p.Thr1667Met
NM_001127487.1:c.5000C>T NP_001120959.1:p.Thr1667Met
NM_001458.4:c.5000C>T , LRG_870t1:c.5000C>T NP_001449.3:p.Thr1667Met
NM_001127487.2:c.5000C>T NP_001120959.1:p.Thr1667Met
NM_001458.5:c.5000C>T MANE Select NP_001449.3:p.Thr1667Met