Canonical Allele Identifier: CA016208

Gene: FBN1

Linked Data

• ClinVar Variation Id: 161245
• ClinVar RCV Id: RCV000148501 ; RCV000181402 ; RCV000604732 ; RCV000587403 ; RCV000545272
• dbSNP Id: rs201309310
• ExAC: 15:48936908 T / C
• gnomAD v2: 15-48936908-T-C
• gnomAD v3: 15-48644711-T-C
• gnomAD v4: 15-48644711-T-C
• MyVariant Identifiers: chr15:g.48936908T>C (hg19) ; chr15:g.48644711T>C (hg38)
• PubMed: PMID:16222657 ; PMID:23891399 ; PMID:24941995 ; PMID:25637381 ; PMID:25812041 ; PMID:26017485
• ERepo: CA016208/MONDO:0007947/022

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644711T>C , CM000677.2:g.48644711T>C	GRCh38
NC_000015.9:g.48936908T>C , CM000677.1:g.48936908T>C	GRCh37
NC_000015.8:g.46724200T>C	NCBI36
NG_008805.2:g.6078A>G , LRG_778:g.6078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.59A>G	ENSP00000453958.2:p.Tyr20Cys
ENST00000674301.2:c.59A>G	ENSP00000501333.2:p.Tyr20Cys
ENST00000316623.10:c.59A>G MANE Select	ENSP00000325527.5:p.Tyr20Cys
ENST00000316623.9:c.59A>G	ENSP00000325527.5:p.Tyr20Cys
ENST00000537463.6:c.59A>G	ENSP00000440294.2:p.Tyr20Cys
ENST00000558230.1:n.122A>G
ENST00000560355.1:c.59A>G	ENSP00000453901.1:p.Tyr20Cys
NM_000138.4:c.59A>G , LRG_778t1:c.59A>G	NP_000129.3:p.Tyr20Cys
NM_000138.5:c.59A>G MANE Select	NP_000129.3:p.Tyr20Cys