Canonical Allele Identifier: CA833139919

Gene: FLNC

Linked Data

• dbSNP Id: rs895285145
• gnomAD v4: 7-128843050-G-T
• MyVariant Identifiers: chr7:g.128483104G>T (hg19) ; chr7:g.128843050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128843050G>T , CM000669.2:g.128843050G>T	GRCh38
NC_000007.13:g.128483104G>T , CM000669.1:g.128483104G>T	GRCh37
NC_000007.12:g.128270340G>T	NCBI36
NG_011807.1:g.17622G>T , LRG_870:g.17622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.2550+96G>T MANE Select	ENSP00000327145.8:n.2550+96G>T
ENST00000325888.12:c.2550+96G>T	ENSP00000327145.8:n.2550+96G>T
ENST00000346177.6:c.2550+96G>T	ENSP00000344002.6:n.2550+96G>T
NM_001127487.1:c.2550+96G>T	NP_001120959.1:n.2550+96G>T
NM_001458.4:c.2550+96G>T , LRG_870t1:c.2550+96G>T	NP_001449.3:n.2550+96G>T
NM_001127487.2:c.2550+96G>T	NP_001120959.1:n.2550+96G>T
NM_001458.5:c.2550+96G>T MANE Select	NP_001449.3:n.2550+96G>T