Canonical Allele Identifier: CA012019

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42281
• ClinVar RCV Id: RCV000035114
• dbSNP Id: rs397515754
• MyVariant Identifiers: chr15:g.48808515T>A (hg19) ; chr15:g.48516318T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48516318T>A , CM000677.2:g.48516318T>A	GRCh38
NC_000015.9:g.48808515T>A , CM000677.1:g.48808515T>A	GRCh37
NC_000015.8:g.46595807T>A	NCBI36
NG_008805.2:g.134471A>T , LRG_778:g.134471A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1192A>T	ENSP00000453958.2:p.Arg398Ter
ENST00000674301.2:c.1192A>T	ENSP00000501333.2:p.Arg398Ter
ENST00000316623.10:c.1192A>T MANE Select	ENSP00000325527.5:p.Arg398Ter
ENST00000316623.9:c.1192A>T	ENSP00000325527.5:p.Arg398Ter
ENST00000537463.6:c.636+21393A>T	ENSP00000440294.2:n.636+21393A>T
NM_000138.4:c.1192A>T , LRG_778t1:c.1192A>T	NP_000129.3:p.Arg398Ter
NM_000138.5:c.1192A>T MANE Select	NP_000129.3:p.Arg398Ter