Canonical Allele Identifier: CA490119145

Gene: FBN1

Linked Data

• gnomAD v4: 15-48415574-C-G
• MyVariant Identifiers: chr15:g.48707771C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415574C>G , CM000677.2:g.48415574C>G	GRCh38
NC_000015.9:g.48707771C>G , CM000677.1:g.48707771C>G	GRCh37
NC_000015.8:g.46495063C>G	NCBI36
NG_008805.2:g.235215G>C , LRG_778:g.235215G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*821G>C	ENSP00000453958.2:n.*821G>C
ENST00000674301.2:c.*1526G>C	ENSP00000501333.2:n.*1526G>C
ENST00000682158.1:n.1394G>C
ENST00000682170.1:n.2194G>C
ENST00000682767.1:n.1310G>C
ENST00000316623.10:c.8013G>C MANE Select	ENSP00000325527.5:p.Leu2671=
ENST00000674301.1:c.3179G>C	ENSP00000501333.1:n.3179G>C
ENST00000316623.9:c.8013G>C	ENSP00000325527.5:p.Leu2671=
ENST00000559133.5:c.3382G>C
ENST00000561429.1:n.268G>C
NM_000138.4:c.8013G>C , LRG_778t1:c.8013G>C	NP_000129.3:p.Leu2671=
NM_000138.5:c.8013G>C MANE Select	NP_000129.3:p.Leu2671=