Canonical Allele Identifier: CA490023135

Gene: FBN1

Linked Data

• gnomAD v4: 15-48448802-A-G
• MyVariant Identifiers: chr15:g.48740999A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448802A>G , CM000677.2:g.48448802A>G	GRCh38
NC_000015.9:g.48740999A>G , CM000677.1:g.48740999A>G	GRCh37
NC_000015.8:g.46528291A>G	NCBI36
NG_008805.2:g.201987T>C , LRG_778:g.201987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5637T>C	ENSP00000453958.2:p.Gly1879=
ENST00000674301.2:c.5637T>C	ENSP00000501333.2:p.Gly1879=
ENST00000684448.1:n.4311T>C
ENST00000316623.10:c.5637T>C MANE Select	ENSP00000325527.5:p.Gly1879=
ENST00000674301.1:c.636T>C	ENSP00000501333.1:p.Gly212=
ENST00000316623.9:c.5637T>C	ENSP00000325527.5:p.Gly1879=
ENST00000537463.6:c.*1400T>C	ENSP00000440294.2:n.*1400T>C
ENST00000559133.5:c.944T>C
NM_000138.4:c.5637T>C , LRG_778t1:c.5637T>C	NP_000129.3:p.Gly1879=
NM_000138.5:c.5637T>C MANE Select	NP_000129.3:p.Gly1879=