Canonical Allele Identifier: CA390640838

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 886192
• ClinVar RCV Id: RCV001118252 ; RCV001118251
• dbSNP Id: rs754104809
• gnomAD v4: 14-91877609-C-G
• MyVariant Identifiers: chr14:g.92343953C>G (hg19) ; chr14:g.91877609C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877609C>G , CM000676.2:g.91877609C>G	GRCh38
NC_000014.8:g.92343953C>G , CM000676.1:g.92343953C>G	GRCh37
NC_000014.7:g.91413706C>G	NCBI36
NG_008254.1:g.75094G>C , LRG_364:g.75094G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1029G>C	ENSP00000451002.1:n.*1029G>C
ENST00000557570.2:c.895G>C	ENSP00000450787.2:p.Val299Leu
ENST00000706675.1:n.878G>C
ENST00000706676.1:c.1237G>C	ENSP00000516492.1:p.Val413Leu
ENST00000706677.1:c.1063G>C	ENSP00000516493.1:p.Val355Leu
ENST00000706678.1:n.983G>C
ENST00000706679.1:c.895G>C	ENSP00000516494.1:p.Val299Leu
ENST00000706680.1:c.*906G>C	ENSP00000516495.1:n.*906G>C
ENST00000706681.1:c.*802G>C	ENSP00000516496.1:n.*802G>C
ENST00000342058.9:c.1063G>C MANE Select	ENSP00000345008.4:p.Val355Leu
ENST00000267620.14:c.1186G>C	ENSP00000267620.10:p.Val396Leu
ENST00000342058.8:c.1063G>C	ENSP00000345008.4:p.Val355Leu
ENST00000554121.2:n.189G>C
ENST00000556154.5:c.1078G>C	ENSP00000451982.1:p.Val360Leu
NM_006329.3:c.1063G>C , LRG_364t1:c.1063G>C	NP_006320.2:p.Val355Leu
XM_005267267.3:c.1114G>C	XP_005267324.1:p.Val372Leu
XM_011536356.1:c.1114G>C	XP_011534658.1:p.Val372Leu
XM_011536357.1:c.1063G>C	XP_011534659.1:p.Val355Leu
XM_011536358.1:c.895G>C	XP_011534660.1:p.Val299Leu
XM_011536357.2:c.1063G>C	XP_011534659.1:p.Val355Leu
XM_011536358.2:c.895G>C	XP_011534660.1:p.Val299Leu
XM_017020929.2:c.895G>C	XP_016876418.1:p.Val299Leu
NM_001384158.1:c.1186G>C	NP_001371087.1:p.Val396Leu
NM_001384159.1:c.1114G>C	NP_001371088.1:p.Val372Leu
NM_001384160.1:c.1063G>C	NP_001371089.1:p.Val355Leu
NM_001384161.1:c.895G>C	NP_001371090.1:p.Val299Leu
NM_001384162.1:c.895G>C	NP_001371091.1:p.Val299Leu
NM_006329.4:c.1063G>C MANE Select	NP_006320.2:p.Val355Leu