Canonical Allele Identifier: CA713393266

Gene: FBN1

Linked Data

• dbSNP Id: rs1227128718
• gnomAD v3: 15-48430631-T-C
• gnomAD v4: 15-48430631-T-C
• MyVariant Identifiers: chr15:g.48722828T>C (hg19) ; chr15:g.48430631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430631T>C , CM000677.2:g.48430631T>C	GRCh38
NC_000015.9:g.48722828T>C , CM000677.1:g.48722828T>C	GRCh37
NC_000015.8:g.46510120T>C	NCBI36
NG_008805.2:g.220158A>G , LRG_778:g.220158A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6871+40A>G	ENSP00000453958.2:n.6871+40A>G
ENST00000674301.2:c.*322+40A>G	ENSP00000501333.2:n.*322+40A>G
ENST00000682170.1:n.480+40A>G
ENST00000316623.10:c.6871+40A>G MANE Select	ENSP00000325527.5:n.6871+40A>G
ENST00000674301.1:c.1975+40A>G	ENSP00000501333.1:n.1975+40A>G
ENST00000316623.9:c.6871+40A>G	ENSP00000325527.5:n.6871+40A>G
ENST00000559133.5:c.2178+40A>G
ENST00000560720.1:n.158+40A>G
NM_000138.4:c.6871+40A>G , LRG_778t1:c.6871+40A>G	NP_000129.3:n.6871+40A>G
NM_000138.5:c.6871+40A>G MANE Select	NP_000129.3:n.6871+40A>G