Canonical Allele Identifier: CA392325935

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2921756
• ClinVar RCV Id: RCV003782778
• MyVariant Identifiers: chr15:g.48714199A>C (hg19) ; chr15:g.48422002A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422002A>C , CM000677.2:g.48422002A>C	GRCh38
NC_000015.9:g.48714199A>C , CM000677.1:g.48714199A>C	GRCh37
NC_000015.8:g.46501491A>C	NCBI36
NG_008805.2:g.228787T>G , LRG_778:g.228787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*328T>G	ENSP00000453958.2:n.*328T>G
ENST00000674301.2:c.*1033T>G	ENSP00000501333.2:n.*1033T>G
ENST00000682170.1:n.1701T>G
ENST00000682767.1:n.817T>G
ENST00000316623.10:c.7520T>G MANE Select	ENSP00000325527.5:p.Phe2507Cys
ENST00000674301.1:c.2686T>G	ENSP00000501333.1:n.2686T>G
ENST00000316623.9:c.7520T>G	ENSP00000325527.5:p.Phe2507Cys
ENST00000559133.5:c.2889T>G
NM_000138.4:c.7520T>G , LRG_778t1:c.7520T>G	NP_000129.3:p.Phe2507Cys
NM_000138.5:c.7520T>G MANE Select	NP_000129.3:p.Phe2507Cys