Canonical Allele Identifier: CA969542816

Gene: FBN1

Linked Data

• dbSNP Id: rs950869804
• gnomAD v3: 15-48428728-T-C
• gnomAD v4: 15-48428728-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428728T>C , CM000677.2:g.48428728T>C	GRCh38
NC_000015.9:g.48720925T>C , CM000677.1:g.48720925T>C	GRCh37
NC_000015.8:g.46508217T>C	NCBI36
NG_008805.2:g.222061A>G , LRG_778:g.222061A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-257A>G	ENSP00000453958.2:n.6872-257A>G
ENST00000674301.2:c.*323-257A>G	ENSP00000501333.2:n.*323-257A>G
ENST00000682170.1:n.481-257A>G
ENST00000316623.10:c.6872-257A>G MANE Select	ENSP00000325527.5:n.6872-257A>G
ENST00000674301.1:c.1976-257A>G	ENSP00000501333.1:n.1976-257A>G
ENST00000316623.9:c.6872-257A>G	ENSP00000325527.5:n.6872-257A>G
ENST00000559133.5:c.2179-257A>G
ENST00000560720.1:n.159-257A>G
NM_000138.4:c.6872-257A>G , LRG_778t1:c.6872-257A>G	NP_000129.3:n.6872-257A>G
NM_000138.5:c.6872-257A>G MANE Select	NP_000129.3:n.6872-257A>G