Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA369208513

Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 945918

ClinVar RCV Id: RCV001216669

dbSNP Id: rs1808817011

gnomAD v4: 7-128851589-A-G

MyVariant Identifiers: chr7:g.128491643A>G (hg19) chr7:g.128851589A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128851589A>G , CM000669.2:g.128851589A>G	GRCh38
NC_000007.13:g.128491643A>G , CM000669.1:g.128491643A>G	GRCh37
NC_000007.12:g.128278879A>G	NCBI36
NG_011807.1:g.26161A>G , LRG_870:g.26161A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.5803A>G (FLNC) MANE Select	ENSP00000327145.8:p.Lys1935Glu
ENST00000325888.12:c.5803A>G (FLNC)	ENSP00000327145.8:p.Lys1935Glu
ENST00000346177.6:c.5704A>G (FLNC)	ENSP00000344002.6:p.Lys1902Glu
NM_001127487.1:c.5704A>G (FLNC)	NP_001120959.1:p.Lys1902Glu
NM_001458.4:c.5803A>G , LRG_870t1:c.5803A>G (FLNC)	NP_001449.3:p.Lys1935Glu
NR_149055.1:n.216-89T>C (FLNC-AS1)
NM_001127487.2:c.5704A>G (FLNC)	NP_001120959.1:p.Lys1902Glu
NM_001458.5:c.5803A>G (FLNC) MANE Select	NP_001449.3:p.Lys1935Glu