Canonical Allele Identifier: CA617832382

Gene: FBN1

Linked Data

• dbSNP Id: rs1342022761
• gnomAD v2: 15-48702942-T-C
• gnomAD v3: 15-48410745-T-C
• gnomAD v4: 15-48410745-T-C
• MyVariant Identifiers: chr15:g.48702942T>C (hg19) ; chr15:g.48410745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410745T>C , CM000677.2:g.48410745T>C	GRCh38
NC_000015.9:g.48702942T>C , CM000677.1:g.48702942T>C	GRCh37
NC_000015.8:g.46490234T>C	NCBI36
NG_008805.2:g.240044A>G , LRG_778:g.240044A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1669A>G	ENSP00000453958.2:n.*1669A>G
ENST00000682158.1:n.2242A>G
ENST00000682170.1:n.3042A>G
ENST00000682767.1:n.2158A>G
ENST00000316623.10:c.*245A>G MANE Select	ENSP00000325527.5:n.*245A>G
ENST00000316623.9:c.*245A>G	ENSP00000325527.5:n.*245A>G
ENST00000559133.5:c.4230A>G
NM_000138.4:c.*245A>G , LRG_778t1:c.*245A>G	NP_000129.3:n.*245A>G
NM_000138.5:c.*245A>G MANE Select	NP_000129.3:n.*245A>G