Canonical Allele Identifier: CA012118

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200029
• ClinVar RCV Id: RCV000414982 ; RCV000533830 ; RCV000726149 ; RCV001170559 ; RCV003996685
• dbSNP Id: rs762400500
• ExAC: 15:48936828 C / T
• gnomAD v2: 15-48936828-C-T
• gnomAD v3: 15-48644631-C-T
• gnomAD v4: 15-48644631-C-T
• MyVariant Identifiers: chr15:g.48936828C>T (hg19) ; chr15:g.48644631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644631C>T , CM000677.2:g.48644631C>T	GRCh38
NC_000015.9:g.48936828C>T , CM000677.1:g.48936828C>T	GRCh37
NC_000015.8:g.46724120C>T	NCBI36
NG_008805.2:g.6158G>A , LRG_778:g.6158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.139G>A	ENSP00000453958.2:p.Gly47Ser
ENST00000674301.2:c.139G>A	ENSP00000501333.2:p.Gly47Ser
ENST00000316623.10:c.139G>A MANE Select	ENSP00000325527.5:p.Gly47Ser
ENST00000316623.9:c.139G>A	ENSP00000325527.5:p.Gly47Ser
ENST00000537463.6:c.139G>A	ENSP00000440294.2:p.Gly47Ser
ENST00000558230.1:n.202G>A
ENST00000560355.1:c.139G>A	ENSP00000453901.1:p.Gly47Ser
NM_000138.4:c.139G>A , LRG_778t1:c.139G>A	NP_000129.3:p.Gly47Ser
NM_000138.5:c.139G>A MANE Select	NP_000129.3:p.Gly47Ser