Canonical Allele Identifier: CA578150165

Gene: FLNC

Linked Data

• dbSNP Id: rs1438766978
• gnomAD v2: 7-128481062-G-T
• gnomAD v3: 7-128841008-G-T
• gnomAD v4: 7-128841008-G-T
• MyVariant Identifiers: chr7:g.128481062G>T (hg19) ; chr7:g.128841008G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128841008G>T , CM000669.2:g.128841008G>T	GRCh38
NC_000007.13:g.128481062G>T , CM000669.1:g.128481062G>T	GRCh37
NC_000007.12:g.128268298G>T	NCBI36
NG_011807.1:g.15580G>T , LRG_870:g.15580G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1813+38G>T MANE Select	ENSP00000327145.8:n.1813+38G>T
ENST00000325888.12:c.1813+38G>T	ENSP00000327145.8:n.1813+38G>T
ENST00000346177.6:c.1813+38G>T	ENSP00000344002.6:n.1813+38G>T
NM_001127487.1:c.1813+38G>T	NP_001120959.1:n.1813+38G>T
NM_001458.4:c.1813+38G>T , LRG_870t1:c.1813+38G>T	NP_001449.3:n.1813+38G>T
NM_001127487.2:c.1813+38G>T	NP_001120959.1:n.1813+38G>T
NM_001458.5:c.1813+38G>T MANE Select	NP_001449.3:n.1813+38G>T