Canonical Allele Identifier: CA016640

Gene: FBN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432924T>G , CM000677.2:g.48432924T>G	GRCh38
NC_000015.9:g.48725121T>G , CM000677.1:g.48725121T>G	GRCh37
NC_000015.8:g.46512413T>G	NCBI36
NG_008805.2:g.217865A>C , LRG_778:g.217865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6681A>C	ENSP00000453958.2:p.Ser2227=
ENST00000674301.2:c.*132A>C	ENSP00000501333.2:n.*132A>C
ENST00000682170.1:n.290A>C
ENST00000316623.10:c.6681A>C MANE Select	ENSP00000325527.5:p.Ser2227=
ENST00000674301.1:c.1785A>C	ENSP00000501333.1:n.1785A>C
ENST00000316623.9:c.6681A>C	ENSP00000325527.5:p.Ser2227=
ENST00000537463.6:c.*2444A>C	ENSP00000440294.2:n.*2444A>C
ENST00000559133.5:c.1988A>C
NM_000138.4:c.6681A>C , LRG_778t1:c.6681A>C	NP_000129.3:p.Ser2227=
NM_000138.5:c.6681A>C MANE Select	NP_000129.3:p.Ser2227=