Canonical Allele Identifier: CA658683891

Gene: FBN1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420684T>G , CM000677.2:g.48420684T>G	GRCh38
NC_000015.9:g.48712881T>G , CM000677.1:g.48712881T>G	GRCh37
NC_000015.8:g.46500173T>G	NCBI36
NG_008805.2:g.230105A>C , LRG_778:g.230105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*627+3A>C	ENSP00000453958.2:n.*627+3A>C
ENST00000674301.2:c.*1332+3A>C	ENSP00000501333.2:n.*1332+3A>C
ENST00000682170.1:n.2000+3A>C
ENST00000682767.1:n.1116+3A>C
ENST00000316623.10:c.7819+3A>C MANE Select	ENSP00000325527.5:n.7819+3A>C
ENST00000674301.1:c.2985+3A>C	ENSP00000501333.1:n.2985+3A>C
ENST00000316623.9:c.7819+3A>C	ENSP00000325527.5:n.7819+3A>C
ENST00000559133.5:c.3188+3A>C
NM_000138.4:c.7819+3A>C , LRG_778t1:c.7819+3A>C	NP_000129.3:n.7819+3A>C
NM_000138.5:c.7819+3A>C MANE Select	NP_000129.3:n.7819+3A>C