Canonical Allele Identifier: CA369225478
Gene: FLNC HGNC NCBI

Linked Data

dbSNP Id: rs749593461
MyVariant Identifiers: chr7:g.128480098G>T (hg19) chr7:g.128840044G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840044G>T , CM000669.2:g.128840044G>T GRCh38
NC_000007.13:g.128480098G>T , CM000669.1:g.128480098G>T GRCh37
NC_000007.12:g.128267334G>T NCBI36
NG_011807.1:g.14616G>T , LRG_870:g.14616G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1433G>T MANE Select ENSP00000327145.8:p.Arg478Leu
ENST00000325888.12:c.1433G>T ENSP00000327145.8:p.Arg478Leu
ENST00000346177.6:c.1433G>T ENSP00000344002.6:p.Arg478Leu
NM_001127487.1:c.1433G>T NP_001120959.1:p.Arg478Leu
NM_001458.4:c.1433G>T , LRG_870t1:c.1433G>T NP_001449.3:p.Arg478Leu
NM_001127487.2:c.1433G>T NP_001120959.1:p.Arg478Leu
NM_001458.5:c.1433G>T MANE Select NP_001449.3:p.Arg478Leu
Search 100 bp 5'
Search 100 bp 3'