Canonical Allele Identifier: CA969559455

Gene: FBN1

Linked Data

• dbSNP Id: rs2043582551
• gnomAD v3: 15-48494074-T-G
• gnomAD v4: 15-48494074-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494074T>G , CM000677.2:g.48494074T>G	GRCh38
NC_000015.9:g.48786271T>G , CM000677.1:g.48786271T>G	GRCh37
NC_000015.8:g.46573563T>G	NCBI36
NG_008805.2:g.156715A>C , LRG_778:g.156715A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+130A>C	ENSP00000453958.2:n.2728+130A>C
ENST00000674301.2:c.2728+130A>C	ENSP00000501333.2:n.2728+130A>C
ENST00000684448.1:n.1402+130A>C
ENST00000316623.10:c.2728+130A>C MANE Select	ENSP00000325527.5:n.2728+130A>C
ENST00000316623.9:c.2728+130A>C	ENSP00000325527.5:n.2728+130A>C
ENST00000537463.6:c.637-19424A>C	ENSP00000440294.2:n.637-19424A>C
NM_000138.4:c.2728+130A>C , LRG_778t1:c.2728+130A>C	NP_000129.3:n.2728+130A>C
NM_000138.5:c.2728+130A>C MANE Select	NP_000129.3:n.2728+130A>C