Canonical Allele Identifier: CA265591711

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 2192458
• ClinVar RCV Id: RCV002633189
• dbSNP Id: rs959066731
• gnomAD v2: 14-92336583-C-T
• gnomAD v3: 14-91870239-C-T
• gnomAD v4: 14-91870239-C-T
• MyVariant Identifiers: chr14:g.92336583C>T (hg19) ; chr14:g.91870239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870239C>T , CM000676.2:g.91870239C>T	GRCh38
NC_000014.8:g.92336583C>T , CM000676.1:g.92336583C>T	GRCh37
NC_000014.7:g.91406336C>T	NCBI36
NG_008254.1:g.82464G>A , LRG_364:g.82464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1298G>A	ENSP00000451002.1:n.*1298G>A
ENST00000557570.2:c.1164G>A	ENSP00000450787.2:p.Ser388=
ENST00000706675.1:n.1147G>A
ENST00000706676.1:c.1506G>A	ENSP00000516492.1:p.Ser502=
ENST00000706677.1:c.*116G>A	ENSP00000516493.1:n.*116G>A
ENST00000706678.1:n.1252G>A
ENST00000706679.1:c.1164G>A	ENSP00000516494.1:p.Ser388=
ENST00000706680.1:c.*1175G>A	ENSP00000516495.1:n.*1175G>A
ENST00000706681.1:c.*1071G>A	ENSP00000516496.1:n.*1071G>A
ENST00000342058.9:c.1332G>A MANE Select	ENSP00000345008.4:p.Ser444=
ENST00000267620.14:c.1455G>A	ENSP00000267620.10:p.Ser485=
ENST00000342058.8:c.1332G>A	ENSP00000345008.4:p.Ser444=
ENST00000554121.2:n.458G>A
ENST00000556154.5:c.1347G>A	ENSP00000451982.1:p.Ser449=
ENST00000556961.1:n.1467G>A
NM_006329.3:c.1332G>A , LRG_364t1:c.1332G>A	NP_006320.2:p.Ser444=
XM_005267267.3:c.1383G>A	XP_005267324.1:p.Ser461=
XM_011536356.1:c.*116G>A	XP_011534658.1:n.*116G>A
XM_011536357.1:c.*116G>A	XP_011534659.1:n.*116G>A
XM_011536358.1:c.*116G>A	XP_011534660.1:n.*116G>A
XM_011536357.2:c.*116G>A	XP_011534659.1:n.*116G>A
XM_011536358.2:c.*116G>A	XP_011534660.1:n.*116G>A
XM_017020929.2:c.1164G>A	XP_016876418.1:p.Ser388=
NM_001384158.1:c.1455G>A	NP_001371087.1:p.Ser485=
NM_001384159.1:c.1383G>A	NP_001371088.1:p.Ser461=
NM_001384160.1:c.*116G>A	NP_001371089.1:n.*116G>A
NM_001384161.1:c.*116G>A	NP_001371090.1:n.*116G>A
NM_001384162.1:c.1164G>A	NP_001371091.1:p.Ser388=
NM_006329.4:c.1332G>A MANE Select	NP_006320.2:p.Ser444=