Canonical Allele Identifier: CA017236

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200114
• ClinVar RCV Id: RCV000181604 ; RCV000536239 ; RCV003993866 ; RCV003996698
• dbSNP Id: rs767602851
• ExAC: 15:48714190 T / C
• gnomAD v2: 15-48714190-T-C
• gnomAD v3: 15-48421993-T-C
• gnomAD v4: 15-48421993-T-C
• MyVariant Identifiers: chr15:g.48714190T>C (hg19) ; chr15:g.48421993T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421993T>C , CM000677.2:g.48421993T>C	GRCh38
NC_000015.9:g.48714190T>C , CM000677.1:g.48714190T>C	GRCh37
NC_000015.8:g.46501482T>C	NCBI36
NG_008805.2:g.228796A>G , LRG_778:g.228796A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*337A>G	ENSP00000453958.2:n.*337A>G
ENST00000674301.2:c.*1042A>G	ENSP00000501333.2:n.*1042A>G
ENST00000682170.1:n.1710A>G
ENST00000682767.1:n.826A>G
ENST00000316623.10:c.7529A>G MANE Select	ENSP00000325527.5:p.Lys2510Arg
ENST00000674301.1:c.2695A>G	ENSP00000501333.1:n.2695A>G
ENST00000316623.9:c.7529A>G	ENSP00000325527.5:p.Lys2510Arg
ENST00000559133.5:c.2898A>G
NM_000138.4:c.7529A>G , LRG_778t1:c.7529A>G	NP_000129.3:p.Lys2510Arg
NM_000138.5:c.7529A>G MANE Select	NP_000129.3:p.Lys2510Arg