Canonical Allele Identifier: CA269557361

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1082615
• ClinVar RCV Id: RCV001399003 ; RCV003738062
• dbSNP Id: rs761924614
• gnomAD v4: 15-48513539-A-C
• MyVariant Identifiers: chr15:g.48805736A>C (hg19) ; chr15:g.48513539A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48513539A>C , CM000677.2:g.48513539A>C	GRCh38
NC_000015.9:g.48805736A>C , CM000677.1:g.48805736A>C	GRCh37
NC_000015.8:g.46593028A>C	NCBI36
NG_008805.2:g.137250T>G , LRG_778:g.137250T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1588+10T>G	ENSP00000453958.2:n.1588+10T>G
ENST00000674301.2:c.1588+10T>G	ENSP00000501333.2:n.1588+10T>G
ENST00000684448.1:n.262+10T>G
ENST00000316623.10:c.1588+10T>G MANE Select	ENSP00000325527.5:n.1588+10T>G
ENST00000316623.9:c.1588+10T>G	ENSP00000325527.5:n.1588+10T>G
ENST00000537463.6:c.636+24172T>G	ENSP00000440294.2:n.636+24172T>G
NM_000138.4:c.1588+10T>G , LRG_778t1:c.1588+10T>G	NP_000129.3:n.1588+10T>G
NM_000138.5:c.1588+10T>G MANE Select	NP_000129.3:n.1588+10T>G