Canonical Allele Identifier: CA457577782
Gene: FLNC HGNC NCBI

Linked Data

dbSNP Id: rs1808427629
MyVariant Identifiers: chr7:g.128483562T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128843508T>C , CM000669.2:g.128843508T>C GRCh38
NC_000007.13:g.128483562T>C , CM000669.1:g.128483562T>C GRCh37
NC_000007.12:g.128270798T>C NCBI36
NG_011807.1:g.18080T>C , LRG_870:g.18080T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.2742T>C MANE Select ENSP00000327145.8:p.Val914=
ENST00000325888.12:c.2742T>C ENSP00000327145.8:p.Val914=
ENST00000346177.6:c.2742T>C ENSP00000344002.6:p.Val914=
NM_001127487.1:c.2742T>C NP_001120959.1:p.Val914=
NM_001458.4:c.2742T>C , LRG_870t1:c.2742T>C NP_001449.3:p.Val914=
NM_001127487.2:c.2742T>C NP_001120959.1:p.Val914=
NM_001458.5:c.2742T>C MANE Select NP_001449.3:p.Val914=