Canonical Allele Identifier: CA10646558

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 314891
• ClinVar RCV Id: RCV000298567 ; RCV000336918
• dbSNP Id: rs886050893
• MyVariant Identifiers: chr14:g.92414001C>G (hg19) ; chr14:g.91947657C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91947657C>G , CM000676.2:g.91947657C>G	GRCh38
NC_000014.8:g.92414001C>G , CM000676.1:g.92414001C>G	GRCh37
NC_000014.7:g.91483754C>G	NCBI36
NG_008254.1:g.5046G>C , LRG_364:g.5046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.-428G>C	ENSP00000451002.1:n.-428G>C
ENST00000706677.1:c.-428G>C	ENSP00000516493.1:n.-428G>C
ENST00000706680.1:c.-428G>C	ENSP00000516495.1:n.-428G>C
ENST00000706681.1:c.-428G>C	ENSP00000516496.1:n.-428G>C
ENST00000342058.9:c.-428G>C MANE Select	ENSP00000345008.4:n.-428G>C
ENST00000342058.8:c.-428G>C	ENSP00000345008.4:n.-428G>C
ENST00000554468.5:c.-221-207G>C	ENSP00000451486.1:n.-221-207G>C
ENST00000557570.1:c.-428G>C	ENSP00000450787.1:n.-428G>C
NM_006329.3:c.-428G>C , LRG_364t1:c.-428G>C	NP_006320.2:n.-428G>C
XM_011536357.1:c.-428G>C	XP_011534659.1:n.-428G>C
XM_011536358.1:c.-697G>C	XP_011534660.1:n.-697G>C
XM_011536358.2:c.-697G>C	XP_011534660.1:n.-697G>C
XM_017020929.2:c.-697G>C	XP_016876418.1:n.-697G>C
NM_001384158.1:c.-428G>C	NP_001371087.1:n.-428G>C
NM_001384160.1:c.-428G>C	NP_001371089.1:n.-428G>C
NM_001384161.1:c.-697G>C	NP_001371090.1:n.-697G>C
NM_001384162.1:c.-697G>C	NP_001371091.1:n.-697G>C
NM_006329.4:c.-428G>C MANE Select	NP_006320.2:n.-428G>C