Canonical Allele Identifier: CA16606688

Gene: FBN1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427567C>G , CM000677.2:g.48427567C>G	GRCh38
NC_000015.9:g.48719764C>G , CM000677.1:g.48719764C>G	GRCh37
NC_000015.8:g.46507056C>G	NCBI36
NG_008805.2:g.223222G>C , LRG_778:g.223222G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*12G>C	ENSP00000453958.2:n.*12G>C
ENST00000674301.2:c.*717G>C	ENSP00000501333.2:n.*717G>C
ENST00000682170.1:n.1385G>C
ENST00000682767.1:n.501G>C
ENST00000316623.10:c.7204G>C MANE Select	ENSP00000325527.5:p.Asp2402His
ENST00000674301.1:c.2370G>C	ENSP00000501333.1:n.2370G>C
ENST00000316623.9:c.7204G>C	ENSP00000325527.5:p.Asp2402His
ENST00000559133.5:c.2573G>C
NM_000138.4:c.7204G>C , LRG_778t1:c.7204G>C	NP_000129.3:p.Asp2402His
NM_000138.5:c.7204G>C MANE Select	NP_000129.3:p.Asp2402His