Canonical Allele Identifier: CA392338440

Gene: FBN1

Linked Data

• ClinVar Variation Id: 626588
• ClinVar RCV Id: RCV000769630
• dbSNP Id: rs1566897404
• MyVariant Identifiers: chr15:g.48734002C>G (hg19) ; chr15:g.48441805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441805C>G , CM000677.2:g.48441805C>G	GRCh38
NC_000015.9:g.48734002C>G , CM000677.1:g.48734002C>G	GRCh37
NC_000015.8:g.46521294C>G	NCBI36
NG_008805.2:g.208984G>C , LRG_778:g.208984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6079G>C	ENSP00000453958.2:p.Gly2027Arg
ENST00000674301.2:c.6079G>C	ENSP00000501333.2:p.Gly2027Arg
ENST00000316623.10:c.6079G>C MANE Select	ENSP00000325527.5:p.Gly2027Arg
ENST00000674301.1:c.1078G>C	ENSP00000501333.1:p.Gly360Arg
ENST00000316623.9:c.6079G>C	ENSP00000325527.5:p.Gly2027Arg
ENST00000537463.6:c.*1842G>C	ENSP00000440294.2:n.*1842G>C
ENST00000559133.5:c.1386G>C
ENST00000560820.1:n.199G>C
NM_000138.4:c.6079G>C , LRG_778t1:c.6079G>C	NP_000129.3:p.Gly2027Arg
NM_000138.5:c.6079G>C MANE Select	NP_000129.3:p.Gly2027Arg