Canonical Allele Identifier: CA013091

Gene: FBN1

Linked Data

• ClinVar Variation Id: 178035
• ClinVar RCV Id: RCV000154719 ; RCV000470957 ; RCV001117309 ; RCV001117305 ; RCV001117307 ; RCV001118929 ; RCV001117304 ; RCV001117306 ; RCV001117308
• dbSNP Id: rs367618012
• ExAC: 15:48905197 A / G
• gnomAD v2: 15-48905197-A-G
• gnomAD v3: 15-48613000-A-G
• gnomAD v4: 15-48613000-A-G
• MyVariant Identifiers: chr15:g.48905197A>G (hg19) ; chr15:g.48613000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48613000A>G , CM000677.2:g.48613000A>G	GRCh38
NC_000015.9:g.48905197A>G , CM000677.1:g.48905197A>G	GRCh37
NC_000015.8:g.46692489A>G	NCBI36
NG_008805.2:g.37789T>C , LRG_778:g.37789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.247+10T>C	ENSP00000453958.2:n.247+10T>C
ENST00000674301.2:c.247+10T>C	ENSP00000501333.2:n.247+10T>C
ENST00000316623.10:c.247+10T>C MANE Select	ENSP00000325527.5:n.247+10T>C
ENST00000316623.9:c.247+10T>C	ENSP00000325527.5:n.247+10T>C
ENST00000537463.6:c.247+10T>C	ENSP00000440294.2:n.247+10T>C
NM_000138.4:c.247+10T>C , LRG_778t1:c.247+10T>C	NP_000129.3:n.247+10T>C
NM_000138.5:c.247+10T>C MANE Select	NP_000129.3:n.247+10T>C