Canonical Allele Identifier: CA16614509

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406280
• ClinVar RCV Id: RCV000457495 ; RCV002510894
• dbSNP Id: rs1060501029
• gnomAD v4: 15-48446909-T-C
• MyVariant Identifiers: chr15:g.48739106T>C (hg19) ; chr15:g.48446909T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446909T>C , CM000677.2:g.48446909T>C	GRCh38
NC_000015.9:g.48739106T>C , CM000677.1:g.48739106T>C	GRCh37
NC_000015.8:g.46526398T>C	NCBI36
NG_008805.2:g.203880A>G , LRG_778:g.203880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5672-87A>G	ENSP00000453958.2:n.5672-87A>G
ENST00000674301.2:c.5672-87A>G	ENSP00000501333.2:n.5672-87A>G
ENST00000684448.1:n.4346-87A>G
ENST00000316623.10:c.5672-87A>G MANE Select	ENSP00000325527.5:n.5672-87A>G
ENST00000674301.1:c.671-87A>G	ENSP00000501333.1:n.671-87A>G
ENST00000316623.9:c.5672-87A>G	ENSP00000325527.5:n.5672-87A>G
ENST00000537463.6:c.*1435-87A>G	ENSP00000440294.2:n.*1435-87A>G
ENST00000559133.5:c.979-87A>G
NM_000138.4:c.5672-87A>G , LRG_778t1:c.5672-87A>G	NP_000129.3:n.5672-87A>G
NM_000138.5:c.5672-87A>G MANE Select	NP_000129.3:n.5672-87A>G