Canonical Allele Identifier: CA10587852

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263959
• ClinVar RCV Id: RCV001182479 ; RCV000788227 ; RCV003995702 ; RCV001394805
• dbSNP Id: rs886038990
• gnomAD v3: 15-48499025-T-G
• gnomAD v4: 15-48499025-T-G
• MyVariant Identifiers: chr15:g.48791222T>G (hg19) ; chr15:g.48499025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48499025T>G , CM000677.2:g.48499025T>G	GRCh38
NC_000015.9:g.48791222T>G , CM000677.1:g.48791222T>G	GRCh37
NC_000015.8:g.46578514T>G	NCBI36
NG_008805.2:g.151764A>C , LRG_778:g.151764A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2127A>C	ENSP00000453958.2:p.Ala709=
ENST00000674301.2:c.2127A>C	ENSP00000501333.2:p.Ala709=
ENST00000684448.1:n.801A>C
ENST00000316623.10:c.2127A>C MANE Select	ENSP00000325527.5:p.Ala709=
ENST00000316623.9:c.2127A>C	ENSP00000325527.5:p.Ala709=
ENST00000537463.6:c.637-24375A>C	ENSP00000440294.2:n.637-24375A>C
NM_000138.4:c.2127A>C , LRG_778t1:c.2127A>C	NP_000129.3:p.Ala709=
NM_000138.5:c.2127A>C MANE Select	NP_000129.3:p.Ala709=