Canonical Allele Identifier: CA7312906

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 314881
• ClinVar RCV Id: RCV000303754 ; RCV000361075 ; RCV000611423 ; RCV002522340 ; RCV001555554
• dbSNP Id: rs145108467
• ExAC: 14:92403446 A / G
• gnomAD v2: 14-92403446-A-G
• gnomAD v3: 14-91937102-A-G
• gnomAD v4: 14-91937102-A-G
• MyVariant Identifiers: chr14:g.92403446A>G (hg19) ; chr14:g.91937102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91937102A>G , CM000676.2:g.91937102A>G	GRCh38
NC_000014.8:g.92403446A>G , CM000676.1:g.92403446A>G	GRCh37
NC_000014.7:g.91473199A>G	NCBI36
NG_008254.1:g.15601T>C , LRG_364:g.15601T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*190T>C	ENSP00000451002.1:n.*190T>C
ENST00000557570.2:c.56T>C	ENSP00000450787.2:p.Val19Ala
ENST00000706676.1:c.398T>C	ENSP00000516492.1:p.Val133Ala
ENST00000706677.1:c.224T>C	ENSP00000516493.1:p.Val75Ala
ENST00000706679.1:c.56T>C	ENSP00000516494.1:p.Val19Ala
ENST00000706680.1:c.*190T>C	ENSP00000516495.1:n.*190T>C
ENST00000706681.1:c.*118+30T>C	ENSP00000516496.1:n.*118+30T>C
ENST00000342058.9:c.224T>C MANE Select	ENSP00000345008.4:p.Val75Ala
ENST00000267620.14:c.347T>C	ENSP00000267620.10:p.Val116Ala
ENST00000342058.8:c.224T>C	ENSP00000345008.4:p.Val75Ala
ENST00000554468.5:c.224T>C	ENSP00000451486.1:p.Val75Ala
ENST00000556154.5:c.239T>C	ENSP00000451982.1:p.Val80Ala
ENST00000557088.5:c.*190T>C	ENSP00000451002.1:n.*190T>C
ENST00000557462.5:n.470T>C
NM_006329.3:c.224T>C , LRG_364t1:c.224T>C	NP_006320.2:p.Val75Ala
XM_005267267.3:c.275T>C	XP_005267324.1:p.Val92Ala
XM_011536356.1:c.275T>C	XP_011534658.1:p.Val92Ala
XM_011536357.1:c.224T>C	XP_011534659.1:p.Val75Ala
XM_011536358.1:c.56T>C	XP_011534660.1:p.Val19Ala
XM_011536357.2:c.224T>C	XP_011534659.1:p.Val75Ala
XM_011536358.2:c.56T>C	XP_011534660.1:p.Val19Ala
XM_017020929.2:c.56T>C	XP_016876418.1:p.Val19Ala
NM_001384158.1:c.347T>C	NP_001371087.1:p.Val116Ala
NM_001384159.1:c.275T>C	NP_001371088.1:p.Val92Ala
NM_001384160.1:c.224T>C	NP_001371089.1:p.Val75Ala
NM_001384161.1:c.56T>C	NP_001371090.1:p.Val19Ala
NM_001384162.1:c.56T>C	NP_001371091.1:p.Val19Ala
NM_006329.4:c.224T>C MANE Select	NP_006320.2:p.Val75Ala