Canonical Allele Identifier: CA056573

Gene: FBN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437421A>G , CM000677.2:g.48437421A>G	GRCh38
NC_000015.9:g.48729618A>G , CM000677.1:g.48729618A>G	GRCh37
NC_000015.8:g.46516910A>G	NCBI36
NG_008805.2:g.213368T>C , LRG_778:g.213368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6314-34T>C	ENSP00000453958.2:n.6314-34T>C
ENST00000674301.2:c.6314-34T>C	ENSP00000501333.2:n.6314-34T>C
ENST00000316623.10:c.6314-34T>C MANE Select	ENSP00000325527.5:n.6314-34T>C
ENST00000674301.1:c.1313-34T>C	ENSP00000501333.1:n.1313-34T>C
ENST00000316623.9:c.6314-34T>C	ENSP00000325527.5:n.6314-34T>C
ENST00000537463.6:c.*2077-34T>C	ENSP00000440294.2:n.*2077-34T>C
ENST00000559133.5:c.1621-34T>C
NM_000138.4:c.6314-34T>C , LRG_778t1:c.6314-34T>C	NP_000129.3:n.6314-34T>C
NM_000138.5:c.6314-34T>C MANE Select	NP_000129.3:n.6314-34T>C