Canonical Allele Identifier: CA7312770

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1518702
• ClinVar RCV Id: RCV002024056 ; RCV003250435
• dbSNP Id: rs147365284
• ExAC: 14:92353630 G / A
• gnomAD v2: 14-92353630-G-A
• gnomAD v3: 14-91887286-G-A
• gnomAD v4: 14-91887286-G-A
• MyVariant Identifiers: chr14:g.92353630G>A (hg19) ; chr14:g.91887286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887286G>A , CM000676.2:g.91887286G>A	GRCh38
NC_000014.8:g.92353630G>A , CM000676.1:g.92353630G>A	GRCh37
NC_000014.7:g.91423383G>A	NCBI36
NG_008254.1:g.65417C>T , LRG_364:g.65417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*612C>T	ENSP00000451002.1:n.*612C>T
ENST00000557570.2:c.478C>T	ENSP00000450787.2:p.Pro160Ser
ENST00000706676.1:c.820C>T	ENSP00000516492.1:p.Pro274Ser
ENST00000706677.1:c.646C>T	ENSP00000516493.1:p.Pro216Ser
ENST00000706678.1:n.566C>T
ENST00000706679.1:c.478C>T	ENSP00000516494.1:p.Pro160Ser
ENST00000706680.1:c.*489C>T	ENSP00000516495.1:n.*489C>T
ENST00000706681.1:c.*385C>T	ENSP00000516496.1:n.*385C>T
ENST00000342058.9:c.646C>T MANE Select	ENSP00000345008.4:p.Pro216Ser
ENST00000267620.14:c.769C>T	ENSP00000267620.10:p.Pro257Ser
ENST00000342058.8:c.646C>T	ENSP00000345008.4:p.Pro216Ser
ENST00000556154.5:c.661C>T	ENSP00000451982.1:p.Pro221Ser
NM_006329.3:c.646C>T , LRG_364t1:c.646C>T	NP_006320.2:p.Pro216Ser
XM_005267267.3:c.697C>T	XP_005267324.1:p.Pro233Ser
XM_011536356.1:c.697C>T	XP_011534658.1:p.Pro233Ser
XM_011536357.1:c.646C>T	XP_011534659.1:p.Pro216Ser
XM_011536358.1:c.478C>T	XP_011534660.1:p.Pro160Ser
XM_011536357.2:c.646C>T	XP_011534659.1:p.Pro216Ser
XM_011536358.2:c.478C>T	XP_011534660.1:p.Pro160Ser
XM_017020929.2:c.478C>T	XP_016876418.1:p.Pro160Ser
NM_001384158.1:c.769C>T	NP_001371087.1:p.Pro257Ser
NM_001384159.1:c.697C>T	NP_001371088.1:p.Pro233Ser
NM_001384160.1:c.646C>T	NP_001371089.1:p.Pro216Ser
NM_001384161.1:c.478C>T	NP_001371090.1:p.Pro160Ser
NM_001384162.1:c.478C>T	NP_001371091.1:p.Pro160Ser
NM_006329.4:c.646C>T MANE Select	NP_006320.2:p.Pro216Ser