Canonical Allele Identifier: CA390639420

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1483094
• ClinVar RCV Id: RCV001995971
• dbSNP Id: rs1195657748
• gnomAD v2: 14-92336692-C-T
• gnomAD v4: 14-91870348-C-T
• MyVariant Identifiers: chr14:g.92336692C>T (hg19) ; chr14:g.91870348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870348C>T , CM000676.2:g.91870348C>T	GRCh38
NC_000014.8:g.92336692C>T , CM000676.1:g.92336692C>T	GRCh37
NC_000014.7:g.91406445C>T	NCBI36
NG_008254.1:g.82355G>A , LRG_364:g.82355G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*1189G>A	ENSP00000451002.1:n.*1189G>A
ENST00000557570.2:c.1055G>A	ENSP00000450787.2:p.Arg352His
ENST00000706675.1:n.1038G>A
ENST00000706676.1:c.1397G>A	ENSP00000516492.1:p.Arg466His
ENST00000706677.1:c.*7G>A	ENSP00000516493.1:n.*7G>A
ENST00000706678.1:n.1143G>A
ENST00000706679.1:c.1055G>A	ENSP00000516494.1:p.Arg352His
ENST00000706680.1:c.*1066G>A	ENSP00000516495.1:n.*1066G>A
ENST00000706681.1:c.*962G>A	ENSP00000516496.1:n.*962G>A
ENST00000342058.9:c.1223G>A MANE Select	ENSP00000345008.4:p.Arg408His
ENST00000267620.14:c.1346G>A	ENSP00000267620.10:p.Arg449His
ENST00000342058.8:c.1223G>A	ENSP00000345008.4:p.Arg408His
ENST00000554121.2:n.349G>A
ENST00000556154.5:c.1238G>A	ENSP00000451982.1:p.Arg413His
ENST00000556961.1:n.1358G>A
NM_006329.3:c.1223G>A , LRG_364t1:c.1223G>A	NP_006320.2:p.Arg408His
XM_005267267.3:c.1274G>A	XP_005267324.1:p.Arg425His
XM_011536356.1:c.*7G>A	XP_011534658.1:n.*7G>A
XM_011536357.1:c.*7G>A	XP_011534659.1:n.*7G>A
XM_011536358.1:c.*7G>A	XP_011534660.1:n.*7G>A
XM_011536357.2:c.*7G>A	XP_011534659.1:n.*7G>A
XM_011536358.2:c.*7G>A	XP_011534660.1:n.*7G>A
XM_017020929.2:c.1055G>A	XP_016876418.1:p.Arg352His
NM_001384158.1:c.1346G>A	NP_001371087.1:p.Arg449His
NM_001384159.1:c.1274G>A	NP_001371088.1:p.Arg425His
NM_001384160.1:c.*7G>A	NP_001371089.1:n.*7G>A
NM_001384161.1:c.*7G>A	NP_001371090.1:n.*7G>A
NM_001384162.1:c.1055G>A	NP_001371091.1:p.Arg352His
NM_006329.4:c.1223G>A MANE Select	NP_006320.2:p.Arg408His