Canonical Allele Identifier: CA016704

Gene: FBN1

Linked Data

• ClinVar Variation Id: 180360
• ClinVar RCV Id: RCV000157234 ; RCV001850181
• dbSNP Id: rs730880107
• MyVariant Identifiers: chr15:g.48725061A>T (hg19) ; chr15:g.48432864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432864A>T , CM000677.2:g.48432864A>T	GRCh38
NC_000015.9:g.48725061A>T , CM000677.1:g.48725061A>T	GRCh37
NC_000015.8:g.46512353A>T	NCBI36
NG_008805.2:g.217925T>A , LRG_778:g.217925T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6739+2T>A	ENSP00000453958.2:n.6739+2T>A
ENST00000674301.2:c.*190+2T>A	ENSP00000501333.2:n.*190+2T>A
ENST00000682170.1:n.348+2T>A
ENST00000316623.10:c.6739+2T>A MANE Select	ENSP00000325527.5:n.6739+2T>A
ENST00000674301.1:c.1843+2T>A	ENSP00000501333.1:n.1843+2T>A
ENST00000316623.9:c.6739+2T>A	ENSP00000325527.5:n.6739+2T>A
ENST00000537463.6:c.*2502+2T>A	ENSP00000440294.2:n.*2502+2T>A
ENST00000559133.5:c.2046+2T>A
ENST00000560720.1:n.26+2T>A
NM_000138.4:c.6739+2T>A , LRG_778t1:c.6739+2T>A	NP_000129.3:n.6739+2T>A
NM_000138.5:c.6739+2T>A MANE Select	NP_000129.3:n.6739+2T>A