Canonical Allele Identifier: CA392334565

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457247
• ClinVar RCV Id: RCV000557422
• dbSNP Id: rs1064793980
• MyVariant Identifiers: chr15:g.48726790C>G (hg19) ; chr15:g.48434593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434593C>G , CM000677.2:g.48434593C>G	GRCh38
NC_000015.9:g.48726790C>G , CM000677.1:g.48726790C>G	GRCh37
NC_000015.8:g.46514082C>G	NCBI36
NG_008805.2:g.216196G>C , LRG_778:g.216196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+1G>C	ENSP00000453958.2:n.6616+1G>C
ENST00000674301.2:c.6616+1G>C	ENSP00000501333.2:n.6616+1G>C
ENST00000682170.1:n.225+1G>C
ENST00000316623.10:c.6616+1G>C MANE Select	ENSP00000325527.5:n.6616+1G>C
ENST00000674301.1:c.1615+1G>C	ENSP00000501333.1:n.1615+1G>C
ENST00000316623.9:c.6616+1G>C	ENSP00000325527.5:n.6616+1G>C
ENST00000537463.6:c.*2379+1G>C	ENSP00000440294.2:n.*2379+1G>C
ENST00000559133.5:c.1923+1G>C
NM_000138.4:c.6616+1G>C , LRG_778t1:c.6616+1G>C	NP_000129.3:n.6616+1G>C
NM_000138.5:c.6616+1G>C MANE Select	NP_000129.3:n.6616+1G>C