Canonical Allele Identifier: CA618009236

Gene: FBN1

Linked Data

• dbSNP Id: rs1274926920
• gnomAD v2: 15-48714307-A-C
• gnomAD v3: 15-48422110-A-C
• gnomAD v4: 15-48422110-A-C
• MyVariant Identifiers: chr15:g.48714307A>C (hg19) ; chr15:g.48422110A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422110A>C , CM000677.2:g.48422110A>C	GRCh38
NC_000015.9:g.48714307A>C , CM000677.1:g.48714307A>C	GRCh37
NC_000015.8:g.46501599A>C	NCBI36
NG_008805.2:g.228679T>G , LRG_778:g.228679T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-42T>G	ENSP00000453958.2:n.*262-42T>G
ENST00000674301.2:c.*967-42T>G	ENSP00000501333.2:n.*967-42T>G
ENST00000682170.1:n.1635-42T>G
ENST00000682767.1:n.751-42T>G
ENST00000316623.10:c.7454-42T>G MANE Select	ENSP00000325527.5:n.7454-42T>G
ENST00000674301.1:c.2620-42T>G	ENSP00000501333.1:n.2620-42T>G
ENST00000316623.9:c.7454-42T>G	ENSP00000325527.5:n.7454-42T>G
ENST00000559133.5:c.2823-42T>G
NM_000138.4:c.7454-42T>G , LRG_778t1:c.7454-42T>G	NP_000129.3:n.7454-42T>G
NM_000138.5:c.7454-42T>G MANE Select	NP_000129.3:n.7454-42T>G