Canonical Allele Identifier: CA457848212

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1102275
• ClinVar RCV Id: RCV001425497
• dbSNP Id: rs2128936403
• gnomAD v4: 7-128844819-T-C
• MyVariant Identifiers: chr7:g.128484873T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128844819T>C , CM000669.2:g.128844819T>C	GRCh38
NC_000007.13:g.128484873T>C , CM000669.1:g.128484873T>C	GRCh37
NC_000007.12:g.128272109T>C	NCBI36
NG_011807.1:g.19391T>C , LRG_870:g.19391T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.3354T>C MANE Select	ENSP00000327145.8:p.Ala1118=
ENST00000325888.12:c.3354T>C	ENSP00000327145.8:p.Ala1118=
ENST00000346177.6:c.3354T>C	ENSP00000344002.6:p.Ala1118=
NM_001127487.1:c.3354T>C	NP_001120959.1:p.Ala1118=
NM_001458.4:c.3354T>C , LRG_870t1:c.3354T>C	NP_001449.3:p.Ala1118=
NM_001127487.2:c.3354T>C	NP_001120959.1:p.Ala1118=
NM_001458.5:c.3354T>C MANE Select	NP_001449.3:p.Ala1118=