Canonical Allele Identifier: CA269554200

Gene: FBN1

Linked Data

• dbSNP Id: rs554235962
• gnomAD v3: 15-48509983-A-G
• gnomAD v4: 15-48509983-A-G
• MyVariant Identifiers: chr15:g.48802180A>G (hg19) ; chr15:g.48509983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509983A>G , CM000677.2:g.48509983A>G	GRCh38
NC_000015.9:g.48802180A>G , CM000677.1:g.48802180A>G	GRCh37
NC_000015.8:g.46589472A>G	NCBI36
NG_008805.2:g.140806T>C , LRG_778:g.140806T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1714+61T>C	ENSP00000453958.2:n.1714+61T>C
ENST00000674301.2:c.1714+61T>C	ENSP00000501333.2:n.1714+61T>C
ENST00000684448.1:n.388+61T>C
ENST00000316623.10:c.1714+61T>C MANE Select	ENSP00000325527.5:n.1714+61T>C
ENST00000316623.9:c.1714+61T>C	ENSP00000325527.5:n.1714+61T>C
ENST00000537463.6:c.636+27728T>C	ENSP00000440294.2:n.636+27728T>C
NM_000138.4:c.1714+61T>C , LRG_778t1:c.1714+61T>C	NP_000129.3:n.1714+61T>C
NM_000138.5:c.1714+61T>C MANE Select	NP_000129.3:n.1714+61T>C