Canonical Allele Identifier: CA392445811

Gene: FBN1

Linked Data

• dbSNP Id: rs2044024474
• gnomAD v4: 15-48537626-T-A
• MyVariant Identifiers: chr15:g.48829823T>A (hg19) ; chr15:g.48537626T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537626T>A , CM000677.2:g.48537626T>A	GRCh38
NC_000015.9:g.48829823T>A , CM000677.1:g.48829823T>A	GRCh37
NC_000015.8:g.46617115T>A	NCBI36
NG_008805.2:g.113163A>T , LRG_778:g.113163A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.721A>T	ENSP00000453958.2:p.Thr241Ser
ENST00000674301.2:c.721A>T	ENSP00000501333.2:p.Thr241Ser
ENST00000316623.10:c.721A>T MANE Select	ENSP00000325527.5:p.Thr241Ser
ENST00000316623.9:c.721A>T	ENSP00000325527.5:p.Thr241Ser
ENST00000537463.6:c.636+85A>T	ENSP00000440294.2:n.636+85A>T
NM_000138.4:c.721A>T , LRG_778t1:c.721A>T	NP_000129.3:p.Thr241Ser
NM_000138.5:c.721A>T MANE Select	NP_000129.3:p.Thr241Ser