Canonical Allele Identifier: CA390639422

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1948568
• ClinVar RCV Id: RCV002667837
• dbSNP Id: rs1263613886
• gnomAD v2: 14-92336693-G-A
• gnomAD v4: 14-91870349-G-A
• MyVariant Identifiers: chr14:g.92336693G>A (hg19) ; chr14:g.91870349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870349G>A , CM000676.2:g.91870349G>A	GRCh38
NC_000014.8:g.92336693G>A , CM000676.1:g.92336693G>A	GRCh37
NC_000014.7:g.91406446G>A	NCBI36
NG_008254.1:g.82354C>T , LRG_364:g.82354C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*1188C>T	ENSP00000451002.1:n.*1188C>T
ENST00000557570.2:c.1054C>T	ENSP00000450787.2:p.Arg352Cys
ENST00000706675.1:n.1037C>T
ENST00000706676.1:c.1396C>T	ENSP00000516492.1:p.Arg466Cys
ENST00000706677.1:c.*6C>T	ENSP00000516493.1:n.*6C>T
ENST00000706678.1:n.1142C>T
ENST00000706679.1:c.1054C>T	ENSP00000516494.1:p.Arg352Cys
ENST00000706680.1:c.*1065C>T	ENSP00000516495.1:n.*1065C>T
ENST00000706681.1:c.*961C>T	ENSP00000516496.1:n.*961C>T
ENST00000342058.9:c.1222C>T MANE Select	ENSP00000345008.4:p.Arg408Cys
ENST00000267620.14:c.1345C>T	ENSP00000267620.10:p.Arg449Cys
ENST00000342058.8:c.1222C>T	ENSP00000345008.4:p.Arg408Cys
ENST00000554121.2:n.348C>T
ENST00000556154.5:c.1237C>T	ENSP00000451982.1:p.Arg413Cys
ENST00000556961.1:n.1357C>T
NM_006329.3:c.1222C>T , LRG_364t1:c.1222C>T	NP_006320.2:p.Arg408Cys
XM_005267267.3:c.1273C>T	XP_005267324.1:p.Arg425Cys
XM_011536356.1:c.*6C>T	XP_011534658.1:n.*6C>T
XM_011536357.1:c.*6C>T	XP_011534659.1:n.*6C>T
XM_011536358.1:c.*6C>T	XP_011534660.1:n.*6C>T
XM_011536357.2:c.*6C>T	XP_011534659.1:n.*6C>T
XM_011536358.2:c.*6C>T	XP_011534660.1:n.*6C>T
XM_017020929.2:c.1054C>T	XP_016876418.1:p.Arg352Cys
NM_001384158.1:c.1345C>T	NP_001371087.1:p.Arg449Cys
NM_001384159.1:c.1273C>T	NP_001371088.1:p.Arg425Cys
NM_001384160.1:c.*6C>T	NP_001371089.1:n.*6C>T
NM_001384161.1:c.*6C>T	NP_001371090.1:n.*6C>T
NM_001384162.1:c.1054C>T	NP_001371091.1:p.Arg352Cys
NM_006329.4:c.1222C>T MANE Select	NP_006320.2:p.Arg408Cys