Canonical Allele Identifier: CA2628334314

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472502-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472502T>C , CM000677.2:g.48472502T>C	GRCh38
NC_000015.9:g.48764699T>C , CM000677.1:g.48764699T>C	GRCh37
NC_000015.8:g.46551991T>C	NCBI36
NG_008805.2:g.178287A>G , LRG_778:g.178287A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+49A>G	ENSP00000453958.2:n.4336+49A>G
ENST00000674301.2:c.4336+49A>G	ENSP00000501333.2:n.4336+49A>G
ENST00000683268.1:n.303+49A>G
ENST00000684448.1:n.3010+49A>G
ENST00000316623.10:c.4336+49A>G MANE Select	ENSP00000325527.5:n.4336+49A>G
ENST00000316623.9:c.4336+49A>G	ENSP00000325527.5:n.4336+49A>G
ENST00000537463.6:c.*99+49A>G	ENSP00000440294.2:n.*99+49A>G
NM_000138.4:c.4336+49A>G , LRG_778t1:c.4336+49A>G	NP_000129.3:n.4336+49A>G
NM_000138.5:c.4336+49A>G MANE Select	NP_000129.3:n.4336+49A>G