Canonical Allele Identifier: CA2175496535

Gene: FBN1

Linked Data

• dbSNP Id: rs770043685

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474663G>C , CM000677.2:g.48474663G>C	GRCh38
NC_000015.9:g.48766860G>C , CM000677.1:g.48766860G>C	GRCh37
NC_000015.8:g.46554152G>C	NCBI36
NG_008805.2:g.176126C>G , LRG_778:g.176126C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3965-13C>G	ENSP00000453958.2:n.3965-13C>G
ENST00000674301.2:c.3965-13C>G	ENSP00000501333.2:n.3965-13C>G
ENST00000684448.1:n.2639-13C>G
ENST00000316623.10:c.3965-13C>G MANE Select	ENSP00000325527.5:n.3965-13C>G
ENST00000316623.9:c.3965-13C>G	ENSP00000325527.5:n.3965-13C>G
ENST00000537463.6:c.637-13C>G	ENSP00000440294.2:n.637-13C>G
NM_000138.4:c.3965-13C>G , LRG_778t1:c.3965-13C>G	NP_000129.3:n.3965-13C>G
NM_000138.5:c.3965-13C>G MANE Select	NP_000129.3:n.3965-13C>G