Canonical Allele Identifier: CA4474487

Gene: FLNC

Linked Data

• dbSNP Id: rs780039537
• ExAC: 7:128481051 G / T
• gnomAD v2: 7-128481051-G-T
• gnomAD v4: 7-128840997-G-T
• MyVariant Identifiers: chr7:g.128481051G>T (hg19) ; chr7:g.128840997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128840997G>T , CM000669.2:g.128840997G>T	GRCh38
NC_000007.13:g.128481051G>T , CM000669.1:g.128481051G>T	GRCh37
NC_000007.12:g.128268287G>T	NCBI36
NG_011807.1:g.15569G>T , LRG_870:g.15569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1813+27G>T MANE Select	ENSP00000327145.8:n.1813+27G>T
ENST00000325888.12:c.1813+27G>T	ENSP00000327145.8:n.1813+27G>T
ENST00000346177.6:c.1813+27G>T	ENSP00000344002.6:n.1813+27G>T
NM_001127487.1:c.1813+27G>T	NP_001120959.1:n.1813+27G>T
NM_001458.4:c.1813+27G>T , LRG_870t1:c.1813+27G>T	NP_001449.3:n.1813+27G>T
NM_001127487.2:c.1813+27G>T	NP_001120959.1:n.1813+27G>T
NM_001458.5:c.1813+27G>T MANE Select	NP_001449.3:n.1813+27G>T