Canonical Allele Identifier: CA617834189

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1614013
• ClinVar RCV Id: RCV002183334
• dbSNP Id: rs745421627
• gnomAD v2: 15-48722858-A-G
• MyVariant Identifiers: chr15:g.48722858A>G (hg19) ; chr15:g.48430661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430661A>G , CM000677.2:g.48430661A>G	GRCh38
NC_000015.9:g.48722858A>G , CM000677.1:g.48722858A>G	GRCh37
NC_000015.8:g.46510150A>G	NCBI36
NG_008805.2:g.220128T>C , LRG_778:g.220128T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6871+10T>C	ENSP00000453958.2:n.6871+10T>C
ENST00000674301.2:c.*322+10T>C	ENSP00000501333.2:n.*322+10T>C
ENST00000682170.1:n.480+10T>C
ENST00000316623.10:c.6871+10T>C MANE Select	ENSP00000325527.5:n.6871+10T>C
ENST00000674301.1:c.1975+10T>C	ENSP00000501333.1:n.1975+10T>C
ENST00000316623.9:c.6871+10T>C	ENSP00000325527.5:n.6871+10T>C
ENST00000559133.5:c.2178+10T>C
ENST00000560720.1:n.158+10T>C
NM_000138.4:c.6871+10T>C , LRG_778t1:c.6871+10T>C	NP_000129.3:n.6871+10T>C
NM_000138.5:c.6871+10T>C MANE Select	NP_000129.3:n.6871+10T>C