Canonical Allele Identifier: CA4475153
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1207565
ClinVar RCV Id: RCV001575596 RCV001866063
dbSNP Id: rs776862347
ExAC: 7:128486095 C / T
gnomAD v2: 7-128486095-C-T
MyVariant Identifiers: chr7:g.128486095C>T (hg19) chr7:g.128846041C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128846041C>T , CM000669.2:g.128846041C>T GRCh38
NC_000007.13:g.128486095C>T , CM000669.1:g.128486095C>T GRCh37
NC_000007.12:g.128273331C>T NCBI36
NG_011807.1:g.20613C>T , LRG_870:g.20613C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.3842C>T MANE Select ENSP00000327145.8:p.Thr1281Ile
ENST00000325888.12:c.3842C>T ENSP00000327145.8:p.Thr1281Ile
ENST00000346177.6:c.3842C>T ENSP00000344002.6:p.Thr1281Ile
NM_001127487.1:c.3842C>T NP_001120959.1:p.Thr1281Ile
NM_001458.4:c.3842C>T , LRG_870t1:c.3842C>T NP_001449.3:p.Thr1281Ile
NM_001127487.2:c.3842C>T NP_001120959.1:p.Thr1281Ile
NM_001458.5:c.3842C>T MANE Select NP_001449.3:p.Thr1281Ile
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