Canonical Allele Identifier: CA392337990

Gene: FBN1

Linked Data

• dbSNP Id: rs553959381
• gnomAD v2: 15-48733934-A-C
• gnomAD v4: 15-48441737-A-C
• MyVariant Identifiers: chr15:g.48733934A>C (hg19) ; chr15:g.48441737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441737A>C , CM000677.2:g.48441737A>C	GRCh38
NC_000015.9:g.48733934A>C , CM000677.1:g.48733934A>C	GRCh37
NC_000015.8:g.46521226A>C	NCBI36
NG_008805.2:g.209052T>G , LRG_778:g.209052T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6147T>G	ENSP00000453958.2:p.Ser2049Arg
ENST00000674301.2:c.6147T>G	ENSP00000501333.2:p.Ser2049Arg
ENST00000316623.10:c.6147T>G MANE Select	ENSP00000325527.5:p.Ser2049Arg
ENST00000674301.1:c.1146T>G	ENSP00000501333.1:p.Ser382Arg
ENST00000316623.9:c.6147T>G	ENSP00000325527.5:p.Ser2049Arg
ENST00000537463.6:c.*1910T>G	ENSP00000440294.2:n.*1910T>G
ENST00000559133.5:c.1454T>G
ENST00000560820.1:n.267T>G
NM_000138.4:c.6147T>G , LRG_778t1:c.6147T>G	NP_000129.3:p.Ser2049Arg
NM_000138.5:c.6147T>G MANE Select	NP_000129.3:p.Ser2049Arg