Canonical Allele Identifier: CA2628334343

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472693-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472693A>C , CM000677.2:g.48472693A>C	GRCh38
NC_000015.9:g.48764890A>C , CM000677.1:g.48764890A>C	GRCh37
NC_000015.8:g.46552182A>C	NCBI36
NG_008805.2:g.178096T>G , LRG_778:g.178096T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4211-17T>G	ENSP00000453958.2:n.4211-17T>G
ENST00000674301.2:c.4211-17T>G	ENSP00000501333.2:n.4211-17T>G
ENST00000683268.1:n.161T>G
ENST00000684448.1:n.2885-17T>G
ENST00000316623.10:c.4211-17T>G MANE Select	ENSP00000325527.5:n.4211-17T>G
ENST00000316623.9:c.4211-17T>G	ENSP00000325527.5:n.4211-17T>G
ENST00000537463.6:c.883-17T>G	ENSP00000440294.2:n.883-17T>G
NM_000138.4:c.4211-17T>G , LRG_778t1:c.4211-17T>G	NP_000129.3:n.4211-17T>G
NM_000138.5:c.4211-17T>G MANE Select	NP_000129.3:n.4211-17T>G