Canonical Allele Identifier: CA2628325160

Gene: FBN1

Linked Data

• gnomAD v4: 15-48412475-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412475T>C , CM000677.2:g.48412475T>C	GRCh38
NC_000015.9:g.48704672T>C , CM000677.1:g.48704672T>C	GRCh37
NC_000015.8:g.46491964T>C	NCBI36
NG_008805.2:g.238314A>G , LRG_778:g.238314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1034+94A>G	ENSP00000453958.2:n.*1034+94A>G
ENST00000674301.2:c.*1739+94A>G	ENSP00000501333.2:n.*1739+94A>G
ENST00000682158.1:n.1607+94A>G
ENST00000682170.1:n.2407+94A>G
ENST00000682767.1:n.1523+94A>G
ENST00000316623.10:c.8226+94A>G MANE Select	ENSP00000325527.5:n.8226+94A>G
ENST00000674301.1:c.3392+94A>G	ENSP00000501333.1:n.3392+94A>G
ENST00000316623.9:c.8226+94A>G	ENSP00000325527.5:n.8226+94A>G
ENST00000559133.5:c.3595+94A>G
ENST00000561429.1:n.481+94A>G
NM_000138.4:c.8226+94A>G , LRG_778t1:c.8226+94A>G	NP_000129.3:n.8226+94A>G
NM_000138.5:c.8226+94A>G MANE Select	NP_000129.3:n.8226+94A>G