Canonical Allele Identifier: CA213138

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 5478
• ClinVar RCV Id: RCV000005812 ; RCV001851679 ; RCV003447070
• dbSNP Id: rs121434300
• ExAC: 14:92403458 C / T
• gnomAD v2: 14-92403458-C-T
• gnomAD v3: 14-91937114-C-T
• gnomAD v4: 14-91937114-C-T
• COSMIC: COSM5800508
• MyVariant Identifiers: chr14:g.92403458C>T (hg19) ; chr14:g.91937114C>T (hg38)
• PubMed: PMID:15269314 ; PMID:21576112

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91937114C>T , CM000676.2:g.91937114C>T	GRCh38
NC_000014.8:g.92403458C>T , CM000676.1:g.92403458C>T	GRCh37
NC_000014.7:g.91473211C>T	NCBI36
NG_008254.1:g.15589G>A , LRG_364:g.15589G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*178G>A	ENSP00000451002.1:n.*178G>A
ENST00000557570.2:c.44G>A	ENSP00000450787.2:p.Arg15Gln
ENST00000706676.1:c.386G>A	ENSP00000516492.1:p.Arg129Gln
ENST00000706677.1:c.212G>A	ENSP00000516493.1:p.Arg71Gln
ENST00000706679.1:c.44G>A	ENSP00000516494.1:p.Arg15Gln
ENST00000706680.1:c.*178G>A	ENSP00000516495.1:n.*178G>A
ENST00000706681.1:c.*118+18G>A	ENSP00000516496.1:n.*118+18G>A
ENST00000342058.9:c.212G>A MANE Select	ENSP00000345008.4:p.Arg71Gln
ENST00000267620.14:c.335G>A	ENSP00000267620.10:p.Arg112Gln
ENST00000342058.8:c.212G>A	ENSP00000345008.4:p.Arg71Gln
ENST00000554468.5:c.212G>A	ENSP00000451486.1:p.Arg71Gln
ENST00000556154.5:c.227G>A	ENSP00000451982.1:p.Arg76Gln
ENST00000557088.5:c.*178G>A	ENSP00000451002.1:n.*178G>A
ENST00000557462.5:n.458G>A
NM_006329.3:c.212G>A , LRG_364t1:c.212G>A	NP_006320.2:p.Arg71Gln
XM_005267267.3:c.263G>A	XP_005267324.1:p.Arg88Gln
XM_011536356.1:c.263G>A	XP_011534658.1:p.Arg88Gln
XM_011536357.1:c.212G>A	XP_011534659.1:p.Arg71Gln
XM_011536358.1:c.44G>A	XP_011534660.1:p.Arg15Gln
XM_011536357.2:c.212G>A	XP_011534659.1:p.Arg71Gln
XM_011536358.2:c.44G>A	XP_011534660.1:p.Arg15Gln
XM_017020929.2:c.44G>A	XP_016876418.1:p.Arg15Gln
NM_001384158.1:c.335G>A	NP_001371087.1:p.Arg112Gln
NM_001384159.1:c.263G>A	NP_001371088.1:p.Arg88Gln
NM_001384160.1:c.212G>A	NP_001371089.1:p.Arg71Gln
NM_001384161.1:c.44G>A	NP_001371090.1:p.Arg15Gln
NM_001384162.1:c.44G>A	NP_001371091.1:p.Arg15Gln
NM_006329.4:c.212G>A MANE Select	NP_006320.2:p.Arg71Gln