Canonical Allele Identifier: CA369192205

Gene: FLNC

Linked Data

• dbSNP Id: rs1263743573
• gnomAD v2: 7-128483293-C-T
• gnomAD v4: 7-128843239-C-T
• MyVariant Identifiers: chr7:g.128483293C>T (hg19) ; chr7:g.128843239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128843239C>T , CM000669.2:g.128843239C>T	GRCh38
NC_000007.13:g.128483293C>T , CM000669.1:g.128483293C>T	GRCh37
NC_000007.12:g.128270529C>T	NCBI36
NG_011807.1:g.17811C>T , LRG_870:g.17811C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325888.13:c.2561C>T MANE Select	ENSP00000327145.8:p.Ala854Val
ENST00000325888.12:c.2561C>T	ENSP00000327145.8:p.Ala854Val
ENST00000346177.6:c.2561C>T	ENSP00000344002.6:p.Ala854Val
NM_001127487.1:c.2561C>T	NP_001120959.1:p.Ala854Val
NM_001458.4:c.2561C>T , LRG_870t1:c.2561C>T	NP_001449.3:p.Ala854Val
NM_001127487.2:c.2561C>T	NP_001120959.1:p.Ala854Val
NM_001458.5:c.2561C>T MANE Select	NP_001449.3:p.Ala854Val