Canonical Allele Identifier: CA10646537

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 314861
• ClinVar RCV Id: RCV000275616 ; RCV000330737
• dbSNP Id: rs182435130
• gnomAD v2: 14-92335920-C-T
• gnomAD v3: 14-91869576-C-T
• gnomAD v4: 14-91869576-C-T
• MyVariant Identifiers: chr14:g.92335920C>T (hg19) ; chr14:g.91869576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91869576C>T , CM000676.2:g.91869576C>T	GRCh38
NC_000014.8:g.92335920C>T , CM000676.1:g.92335920C>T	GRCh37
NC_000014.7:g.91405673C>T	NCBI36
NG_008254.1:g.83127G>A , LRG_364:g.83127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1961G>A	ENSP00000451002.1:n.*1961G>A
ENST00000557570.2:c.*648G>A	ENSP00000450787.2:n.*648G>A
ENST00000706675.1:n.1810G>A
ENST00000706676.1:c.*648G>A	ENSP00000516492.1:n.*648G>A
ENST00000706677.1:c.*779G>A	ENSP00000516493.1:n.*779G>A
ENST00000706678.1:n.1915G>A
ENST00000706679.1:c.*648G>A	ENSP00000516494.1:n.*648G>A
ENST00000706680.1:c.*1838G>A	ENSP00000516495.1:n.*1838G>A
ENST00000706681.1:c.*1734G>A	ENSP00000516496.1:n.*1734G>A
ENST00000342058.9:c.*648G>A MANE Select	ENSP00000345008.4:n.*648G>A
ENST00000267620.14:c.*648G>A	ENSP00000267620.10:n.*648G>A
ENST00000556961.1:n.2130G>A
NM_006329.3:c.*648G>A , LRG_364t1:c.*648G>A	NP_006320.2:n.*648G>A
XM_005267267.3:c.*648G>A	XP_005267324.1:n.*648G>A
XM_011536356.1:c.*779G>A	XP_011534658.1:n.*779G>A
XM_011536357.1:c.*779G>A	XP_011534659.1:n.*779G>A
XM_011536358.1:c.*779G>A	XP_011534660.1:n.*779G>A
XM_011536357.2:c.*779G>A	XP_011534659.1:n.*779G>A
XM_011536358.2:c.*779G>A	XP_011534660.1:n.*779G>A
XM_017020929.2:c.*648G>A	XP_016876418.1:n.*648G>A
NM_001384158.1:c.*648G>A	NP_001371087.1:n.*648G>A
NM_001384159.1:c.*648G>A	NP_001371088.1:n.*648G>A
NM_001384160.1:c.*779G>A	NP_001371089.1:n.*779G>A
NM_001384161.1:c.*779G>A	NP_001371090.1:n.*779G>A
NM_001384162.1:c.*648G>A	NP_001371091.1:n.*648G>A
NM_006329.4:c.*648G>A MANE Select	NP_006320.2:n.*648G>A