Canonical Allele Identifier: CA617832962

Gene: FBN1

Linked Data

• dbSNP Id: rs1437977655
• gnomAD v2: 15-48714558-A-G
• gnomAD v3: 15-48422361-A-G
• gnomAD v4: 15-48422361-A-G
• MyVariant Identifiers: chr15:g.48714558A>G (hg19) ; chr15:g.48422361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422361A>G , CM000677.2:g.48422361A>G	GRCh38
NC_000015.9:g.48714558A>G , CM000677.1:g.48714558A>G	GRCh37
NC_000015.8:g.46501850A>G	NCBI36
NG_008805.2:g.228428T>C , LRG_778:g.228428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-293T>C	ENSP00000453958.2:n.*262-293T>C
ENST00000674301.2:c.*967-293T>C	ENSP00000501333.2:n.*967-293T>C
ENST00000682170.1:n.1635-293T>C
ENST00000682767.1:n.751-293T>C
ENST00000316623.10:c.7454-293T>C MANE Select	ENSP00000325527.5:n.7454-293T>C
ENST00000674301.1:c.2620-293T>C	ENSP00000501333.1:n.2620-293T>C
ENST00000316623.9:c.7454-293T>C	ENSP00000325527.5:n.7454-293T>C
ENST00000559133.5:c.2823-293T>C
NM_000138.4:c.7454-293T>C , LRG_778t1:c.7454-293T>C	NP_000129.3:n.7454-293T>C
NM_000138.5:c.7454-293T>C MANE Select	NP_000129.3:n.7454-293T>C