Canonical Allele Identifier: CA713390693

Gene: FBN1

Linked Data

• dbSNP Id: rs144417331
• gnomAD v3: 15-48492336-G-C
• gnomAD v4: 15-48492336-G-C
• MyVariant Identifiers: chr15:g.48784533G>C (hg19) ; chr15:g.48492336G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492336G>C , CM000677.2:g.48492336G>C	GRCh38
NC_000015.9:g.48784533G>C , CM000677.1:g.48784533G>C	GRCh37
NC_000015.8:g.46571825G>C	NCBI36
NG_008805.2:g.158453C>G , LRG_778:g.158453C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+125C>G	ENSP00000453958.2:n.2854+125C>G
ENST00000674301.2:c.2854+125C>G	ENSP00000501333.2:n.2854+125C>G
ENST00000684448.1:n.1528+125C>G
ENST00000316623.10:c.2854+125C>G MANE Select	ENSP00000325527.5:n.2854+125C>G
ENST00000316623.9:c.2854+125C>G	ENSP00000325527.5:n.2854+125C>G
ENST00000537463.6:c.637-17686C>G	ENSP00000440294.2:n.637-17686C>G
NM_000138.4:c.2854+125C>G , LRG_778t1:c.2854+125C>G	NP_000129.3:n.2854+125C>G
NM_000138.5:c.2854+125C>G MANE Select	NP_000129.3:n.2854+125C>G