Canonical Allele Identifier: CA166183331
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2938314
ClinVar RCV Id: RCV003797136
dbSNP Id: rs976919874

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847980G>T , CM000669.2:g.128847980G>T GRCh38
NC_000007.13:g.128488034G>T , CM000669.1:g.128488034G>T GRCh37
NC_000007.12:g.128275270G>T NCBI36
NG_011807.1:g.22552G>T , LRG_870:g.22552G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4492G>T MANE Select ENSP00000327145.8:p.Asp1498Tyr
ENST00000325888.12:c.4492G>T ENSP00000327145.8:p.Asp1498Tyr
ENST00000346177.6:c.4492G>T ENSP00000344002.6:p.Asp1498Tyr
NM_001127487.1:c.4492G>T NP_001120959.1:p.Asp1498Tyr
NM_001458.4:c.4492G>T , LRG_870t1:c.4492G>T NP_001449.3:p.Asp1498Tyr
NM_001127487.2:c.4492G>T NP_001120959.1:p.Asp1498Tyr
NM_001458.5:c.4492G>T MANE Select NP_001449.3:p.Asp1498Tyr