Canonical Allele Identifier: CA392328146

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1163972
• ClinVar RCV Id: RCV001509497
• dbSNP Id: rs2141295258
• MyVariant Identifiers: chr15:g.48780646T>A (hg19) ; chr15:g.48488449T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488449T>A , CM000677.2:g.48488449T>A	GRCh38
NC_000015.9:g.48780646T>A , CM000677.1:g.48780646T>A	GRCh37
NC_000015.8:g.46567938T>A	NCBI36
NG_008805.2:g.162340A>T , LRG_778:g.162340A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3127A>T	ENSP00000453958.2:p.Lys1043Ter
ENST00000674301.2:c.3127A>T	ENSP00000501333.2:p.Lys1043Ter
ENST00000684448.1:n.1801A>T
ENST00000316623.10:c.3127A>T MANE Select	ENSP00000325527.5:p.Lys1043Ter
ENST00000316623.9:c.3127A>T	ENSP00000325527.5:p.Lys1043Ter
ENST00000537463.6:c.637-13799A>T	ENSP00000440294.2:n.637-13799A>T
NM_000138.4:c.3127A>T , LRG_778t1:c.3127A>T	NP_000129.3:p.Lys1043Ter
NM_000138.5:c.3127A>T MANE Select	NP_000129.3:p.Lys1043Ter