Canonical Allele Identifier: CA2573052814

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1311614
• ClinVar RCV Id: RCV001752597
• dbSNP Id: rs2128934864

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128840067_128840069delinsTCA , CM000669.2:g.128840067_128840069delinsTCA	GRCh38
NC_000007.13:g.128480121_128480123delinsTCA , CM000669.1:g.128480121_128480123delinsTCA	GRCh37
NC_000007.12:g.128267357_128267359delinsTCA	NCBI36
NG_011807.1:g.14639_14641delinsTCA , LRG_870:g.14639_14641delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1456_1458delinsTCA MANE Select	ENSP00000327145.8:p.Pro486Ser
ENST00000325888.12:c.1456_1458delinsTCA	ENSP00000327145.8:p.Pro486Ser
ENST00000346177.6:c.1456_1458delinsTCA	ENSP00000344002.6:p.Pro486Ser
NM_001127487.1:c.1456_1458delinsTCA	NP_001120959.1:p.Pro486Ser
NM_001458.4:c.1456_1458delinsTCA , LRG_870t1:c.1456_1458delinsTCA	NP_001449.3:p.Pro486Ser
NM_001127487.2:c.1456_1458delinsTCA	NP_001120959.1:p.Pro486Ser
NM_001458.5:c.1456_1458delinsTCA MANE Select	NP_001449.3:p.Pro486Ser