Canonical Allele Identifier: CA16042933

Gene: FBN1

Linked Data

• ClinVar Variation Id: 372606
• ClinVar RCV Id: RCV000414309 ; RCV000663990 ; RCV000632003 ; RCV001553625
• dbSNP Id: rs193922239
• MyVariant Identifiers: chr15:g.48707905C>G (hg19) ; chr15:g.48415708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415708C>G , CM000677.2:g.48415708C>G	GRCh38
NC_000015.9:g.48707905C>G , CM000677.1:g.48707905C>G	GRCh37
NC_000015.8:g.46495197C>G	NCBI36
NG_008805.2:g.235081G>C , LRG_778:g.235081G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*687G>C	ENSP00000453958.2:n.*687G>C
ENST00000674301.2:c.*1392G>C	ENSP00000501333.2:n.*1392G>C
ENST00000682158.1:n.1260G>C
ENST00000682170.1:n.2060G>C
ENST00000682767.1:n.1176G>C
ENST00000316623.10:c.7879G>C MANE Select	ENSP00000325527.5:p.Gly2627Arg
ENST00000674301.1:c.3045G>C	ENSP00000501333.1:n.3045G>C
ENST00000316623.9:c.7879G>C	ENSP00000325527.5:p.Gly2627Arg
ENST00000559133.5:c.3248G>C
ENST00000561429.1:n.134G>C
NM_000138.4:c.7879G>C , LRG_778t1:c.7879G>C	NP_000129.3:p.Gly2627Arg
NM_000138.5:c.7879G>C MANE Select	NP_000129.3:p.Gly2627Arg