Canonical Allele Identifier: CA369197116
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 1366110
ClinVar RCV Id: RCV001961978
dbSNP Id: rs199814952
gnomAD v2: 7-128485021-G-T
gnomAD v4: 7-128844967-G-T
MyVariant Identifiers: chr7:g.128485021G>T (hg19) chr7:g.128844967G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844967G>T , CM000669.2:g.128844967G>T GRCh38
NC_000007.13:g.128485021G>T , CM000669.1:g.128485021G>T GRCh37
NC_000007.12:g.128272257G>T NCBI36
NG_011807.1:g.19539G>T , LRG_870:g.19539G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3502G>T MANE Select ENSP00000327145.8:p.Gly1168Cys
ENST00000325888.12:c.3502G>T ENSP00000327145.8:p.Gly1168Cys
ENST00000346177.6:c.3502G>T ENSP00000344002.6:p.Gly1168Cys
NM_001127487.1:c.3502G>T NP_001120959.1:p.Gly1168Cys
NM_001458.4:c.3502G>T , LRG_870t1:c.3502G>T NP_001449.3:p.Gly1168Cys
NM_001127487.2:c.3502G>T NP_001120959.1:p.Gly1168Cys
NM_001458.5:c.3502G>T MANE Select NP_001449.3:p.Gly1168Cys
Search 100 bp 5'
Search 100 bp 3'