Canonical Allele Identifier: CA7312778

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 287193
• ClinVar RCV Id: RCV000264837 ; RCV000324728 ; RCV000390841 ; RCV003909996
• dbSNP Id: rs200178859
• ExAC: 14:92353655 A / G
• gnomAD v2: 14-92353655-A-G
• gnomAD v3: 14-91887311-A-G
• gnomAD v4: 14-91887311-A-G
• MyVariant Identifiers: chr14:g.92353655A>G (hg19) ; chr14:g.91887311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887311A>G , CM000676.2:g.91887311A>G	GRCh38
NC_000014.8:g.92353655A>G , CM000676.1:g.92353655A>G	GRCh37
NC_000014.7:g.91423408A>G	NCBI36
NG_008254.1:g.65392T>C , LRG_364:g.65392T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*587T>C	ENSP00000451002.1:n.*587T>C
ENST00000557570.2:c.453T>C	ENSP00000450787.2:p.Asp151=
ENST00000706676.1:c.795T>C	ENSP00000516492.1:p.Asp265=
ENST00000706677.1:c.621T>C	ENSP00000516493.1:p.Asp207=
ENST00000706678.1:n.541T>C
ENST00000706679.1:c.453T>C	ENSP00000516494.1:p.Asp151=
ENST00000706680.1:c.*464T>C	ENSP00000516495.1:n.*464T>C
ENST00000706681.1:c.*360T>C	ENSP00000516496.1:n.*360T>C
ENST00000342058.9:c.621T>C MANE Select	ENSP00000345008.4:p.Asp207=
ENST00000267620.14:c.744T>C	ENSP00000267620.10:p.Asp248=
ENST00000342058.8:c.621T>C	ENSP00000345008.4:p.Asp207=
ENST00000556154.5:c.636T>C	ENSP00000451982.1:p.Asp212=
NM_006329.3:c.621T>C , LRG_364t1:c.621T>C	NP_006320.2:p.Asp207=
XM_005267267.3:c.672T>C	XP_005267324.1:p.Asp224=
XM_011536356.1:c.672T>C	XP_011534658.1:p.Asp224=
XM_011536357.1:c.621T>C	XP_011534659.1:p.Asp207=
XM_011536358.1:c.453T>C	XP_011534660.1:p.Asp151=
XM_011536357.2:c.621T>C	XP_011534659.1:p.Asp207=
XM_011536358.2:c.453T>C	XP_011534660.1:p.Asp151=
XM_017020929.2:c.453T>C	XP_016876418.1:p.Asp151=
NM_001384158.1:c.744T>C	NP_001371087.1:p.Asp248=
NM_001384159.1:c.672T>C	NP_001371088.1:p.Asp224=
NM_001384160.1:c.621T>C	NP_001371089.1:p.Asp207=
NM_001384161.1:c.453T>C	NP_001371090.1:p.Asp151=
NM_001384162.1:c.453T>C	NP_001371091.1:p.Asp151=
NM_006329.4:c.621T>C MANE Select	NP_006320.2:p.Asp207=