Canonical Allele Identifier: CA2628329750

Gene: FBN1

Linked Data

• gnomAD v4: 15-48486940-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48486940C>G , CM000677.2:g.48486940C>G	GRCh38
NC_000015.9:g.48779137C>G , CM000677.1:g.48779137C>G	GRCh37
NC_000015.8:g.46566429C>G	NCBI36
NG_008805.2:g.163849G>C , LRG_778:g.163849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+135G>C	ENSP00000453958.2:n.3589+135G>C
ENST00000674301.2:c.3589+135G>C	ENSP00000501333.2:n.3589+135G>C
ENST00000684448.1:n.2263+135G>C
ENST00000316623.10:c.3589+135G>C MANE Select	ENSP00000325527.5:n.3589+135G>C
ENST00000316623.9:c.3589+135G>C	ENSP00000325527.5:n.3589+135G>C
ENST00000537463.6:c.637-12290G>C	ENSP00000440294.2:n.637-12290G>C
NM_000138.4:c.3589+135G>C , LRG_778t1:c.3589+135G>C	NP_000129.3:n.3589+135G>C
NM_000138.5:c.3589+135G>C MANE Select	NP_000129.3:n.3589+135G>C