Canonical Allele Identifier: CA369227517

Gene: FLNC

Linked Data

• dbSNP Id: rs1422764683
• gnomAD v2: 7-128481400-G-T
• gnomAD v4: 7-128841346-G-T
• MyVariant Identifiers: chr7:g.128481400G>T (hg19) ; chr7:g.128841346G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128841346G>T , CM000669.2:g.128841346G>T	GRCh38
NC_000007.13:g.128481400G>T , CM000669.1:g.128481400G>T	GRCh37
NC_000007.12:g.128268636G>T	NCBI36
NG_011807.1:g.15918G>T , LRG_870:g.15918G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1990G>T MANE Select	ENSP00000327145.8:p.Asp664Tyr
ENST00000325888.12:c.1990G>T	ENSP00000327145.8:p.Asp664Tyr
ENST00000346177.6:c.1990G>T	ENSP00000344002.6:p.Asp664Tyr
ENST00000388853.3:n.16G>T
NM_001127487.1:c.1990G>T	NP_001120959.1:p.Asp664Tyr
NM_001458.4:c.1990G>T , LRG_870t1:c.1990G>T	NP_001449.3:p.Asp664Tyr
NM_001127487.2:c.1990G>T	NP_001120959.1:p.Asp664Tyr
NM_001458.5:c.1990G>T MANE Select	NP_001449.3:p.Asp664Tyr