Canonical Allele Identifier: CA2740094845
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2949802
ClinVar RCV Id: RCV003804968

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128849584T>G , CM000669.2:g.128849584T>G GRCh38
NC_000007.13:g.128489638T>G , CM000669.1:g.128489638T>G GRCh37
NC_000007.12:g.128276874T>G NCBI36
NG_011807.1:g.24156T>G , LRG_870:g.24156T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.5199+6T>G MANE Select ENSP00000327145.8:n.5199+6T>G
ENST00000325888.12:c.5199+6T>G ENSP00000327145.8:n.5199+6T>G
ENST00000346177.6:c.5199+6T>G ENSP00000344002.6:n.5199+6T>G
NM_001127487.1:c.5199+6T>G NP_001120959.1:n.5199+6T>G
NM_001458.4:c.5199+6T>G , LRG_870t1:c.5199+6T>G NP_001449.3:n.5199+6T>G
NM_001127487.2:c.5199+6T>G NP_001120959.1:n.5199+6T>G
NM_001458.5:c.5199+6T>G MANE Select NP_001449.3:n.5199+6T>G