Canonical Allele Identifier: CA392319294

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411225-A-G
• MyVariant Identifiers: chr15:g.48703422A>G (hg19) ; chr15:g.48411225A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411225A>G , CM000677.2:g.48411225A>G	GRCh38
NC_000015.9:g.48703422A>G , CM000677.1:g.48703422A>G	GRCh37
NC_000015.8:g.46490714A>G	NCBI36
NG_008805.2:g.239564T>C , LRG_778:g.239564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1189T>C	ENSP00000453958.2:n.*1189T>C
ENST00000674301.2:c.*1894T>C	ENSP00000501333.2:n.*1894T>C
ENST00000682158.1:n.1762T>C
ENST00000682170.1:n.2562T>C
ENST00000682767.1:n.1678T>C
ENST00000316623.10:c.8381T>C MANE Select	ENSP00000325527.5:p.Leu2794Ser
ENST00000674301.1:c.3547T>C	ENSP00000501333.1:n.3547T>C
ENST00000316623.9:c.8381T>C	ENSP00000325527.5:p.Leu2794Ser
ENST00000559133.5:c.3750T>C
ENST00000561429.1:n.636T>C
NM_000138.4:c.8381T>C , LRG_778t1:c.8381T>C	NP_000129.3:p.Leu2794Ser
NM_000138.5:c.8381T>C MANE Select	NP_000129.3:p.Leu2794Ser