Canonical Allele Identifier: CA392333394

Gene: FBN1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432911A>T , CM000677.2:g.48432911A>T	GRCh38
NC_000015.9:g.48725108A>T , CM000677.1:g.48725108A>T	GRCh37
NC_000015.8:g.46512400A>T	NCBI36
NG_008805.2:g.217878T>A , LRG_778:g.217878T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6694T>A	ENSP00000453958.2:p.Cys2232Ser
ENST00000674301.2:c.*145T>A	ENSP00000501333.2:n.*145T>A
ENST00000682170.1:n.303T>A
ENST00000316623.10:c.6694T>A MANE Select	ENSP00000325527.5:p.Cys2232Ser
ENST00000674301.1:c.1798T>A	ENSP00000501333.1:n.1798T>A
ENST00000316623.9:c.6694T>A	ENSP00000325527.5:p.Cys2232Ser
ENST00000537463.6:c.*2457T>A	ENSP00000440294.2:n.*2457T>A
ENST00000559133.5:c.2001T>A
NM_000138.4:c.6694T>A , LRG_778t1:c.6694T>A	NP_000129.3:p.Cys2232Ser
NM_000138.5:c.6694T>A MANE Select	NP_000129.3:p.Cys2232Ser