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: CA369215503

Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 539401

ClinVar RCV Id: RCV000649131

dbSNP Id: rs1334300883

MyVariant Identifiers: chr7:g.128495255G>C (hg19) chr7:g.128855201G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128855201G>C , CM000669.2:g.128855201G>C	GRCh38
NC_000007.13:g.128495255G>C , CM000669.1:g.128495255G>C	GRCh37
NC_000007.12:g.128282491G>C	NCBI36
NG_011807.1:g.29773G>C , LRG_870:g.29773G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.7138G>C (FLNC) MANE Select	ENSP00000327145.8:p.Asp2380His
ENST00000325888.12:c.7138G>C (FLNC)	ENSP00000327145.8:p.Asp2380His
ENST00000346177.6:c.7039G>C (FLNC)	ENSP00000344002.6:p.Asp2347His
NM_001127487.1:c.7039G>C (FLNC)	NP_001120959.1:p.Asp2347His
NM_001458.4:c.7138G>C , LRG_870t1:c.7138G>C (FLNC)	NP_001449.3:p.Asp2380His
NR_149055.1:n.103-1804C>G (FLNC-AS1)
NM_001127487.2:c.7039G>C (FLNC)	NP_001120959.1:p.Asp2347His
NM_001458.5:c.7138G>C (FLNC) MANE Select	NP_001449.3:p.Asp2380His