Canonical Allele Identifier: CA392340884

Gene: FBN1

Linked Data

• ClinVar Variation Id: 928669
• ClinVar RCV Id: RCV001192917 ; RCV003142118
• dbSNP Id: rs2043745437
• MyVariant Identifiers: chr15:g.48802240C>A (hg19) ; chr15:g.48510043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510043C>A , CM000677.2:g.48510043C>A	GRCh38
NC_000015.9:g.48802240C>A , CM000677.1:g.48802240C>A	GRCh37
NC_000015.8:g.46589532C>A	NCBI36
NG_008805.2:g.140746G>T , LRG_778:g.140746G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1714+1G>T	ENSP00000453958.2:n.1714+1G>T
ENST00000674301.2:c.1714+1G>T	ENSP00000501333.2:n.1714+1G>T
ENST00000684448.1:n.388+1G>T
ENST00000316623.10:c.1714+1G>T MANE Select	ENSP00000325527.5:n.1714+1G>T
ENST00000316623.9:c.1714+1G>T	ENSP00000325527.5:n.1714+1G>T
ENST00000537463.6:c.636+27668G>T	ENSP00000440294.2:n.636+27668G>T
NM_000138.4:c.1714+1G>T , LRG_778t1:c.1714+1G>T	NP_000129.3:n.1714+1G>T
NM_000138.5:c.1714+1G>T MANE Select	NP_000129.3:n.1714+1G>T