Canonical Allele Identifier: CA392325855

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421966-T-C
• MyVariant Identifiers: chr15:g.48714163T>C (hg19) ; chr15:g.48421966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421966T>C , CM000677.2:g.48421966T>C	GRCh38
NC_000015.9:g.48714163T>C , CM000677.1:g.48714163T>C	GRCh37
NC_000015.8:g.46501455T>C	NCBI36
NG_008805.2:g.228823A>G , LRG_778:g.228823A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*364A>G	ENSP00000453958.2:n.*364A>G
ENST00000674301.2:c.*1069A>G	ENSP00000501333.2:n.*1069A>G
ENST00000682170.1:n.1737A>G
ENST00000682767.1:n.853A>G
ENST00000316623.10:c.7556A>G MANE Select	ENSP00000325527.5:p.His2519Arg
ENST00000674301.1:c.2722A>G	ENSP00000501333.1:n.2722A>G
ENST00000316623.9:c.7556A>G	ENSP00000325527.5:p.His2519Arg
ENST00000559133.5:c.2925A>G
NM_000138.4:c.7556A>G , LRG_778t1:c.7556A>G	NP_000129.3:p.His2519Arg
NM_000138.5:c.7556A>G MANE Select	NP_000129.3:p.His2519Arg