Canonical Allele Identifier: CA4475749
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2055475
ClinVar RCV Id: RCV002947255
dbSNP Id: rs765663163
ExAC: 7:128491433 G / A
gnomAD v2: 7-128491433-G-A
gnomAD v3: 7-128851379-G-A
gnomAD v4: 7-128851379-G-A
MyVariant Identifiers: chr7:g.128491433G>A (hg19) chr7:g.128851379G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851379G>A , CM000669.2:g.128851379G>A GRCh38
NC_000007.13:g.128491433G>A , CM000669.1:g.128491433G>A GRCh37
NC_000007.12:g.128278669G>A NCBI36
NG_011807.1:g.25951G>A , LRG_870:g.25951G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5668+19G>A (FLNC) MANE Select ENSP00000327145.8:n.5668+19G>A
ENST00000325888.12:c.5668+19G>A (FLNC) ENSP00000327145.8:n.5668+19G>A
ENST00000346177.6:c.5569+19G>A (FLNC) ENSP00000344002.6:n.5569+19G>A
NM_001127487.1:c.5569+19G>A (FLNC) NP_001120959.1:n.5569+19G>A
NM_001458.4:c.5668+19G>A , LRG_870t1:c.5668+19G>A (FLNC) NP_001449.3:n.5668+19G>A
NR_149055.1:n.315+22C>T (FLNC-AS1)
NM_001127487.2:c.5569+19G>A (FLNC) NP_001120959.1:n.5569+19G>A
NM_001458.5:c.5668+19G>A (FLNC) MANE Select NP_001449.3:n.5668+19G>A
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