Canonical Allele Identifier: CA392334720

Gene: FBN1

Linked Data

• dbSNP Id: rs1288652175
• gnomAD v2: 15-48726814-G-T
• gnomAD v4: 15-48434617-G-T
• MyVariant Identifiers: chr15:g.48726814G>T (hg19) ; chr15:g.48434617G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434617G>T , CM000677.2:g.48434617G>T	GRCh38
NC_000015.9:g.48726814G>T , CM000677.1:g.48726814G>T	GRCh37
NC_000015.8:g.46514106G>T	NCBI36
NG_008805.2:g.216172C>A , LRG_778:g.216172C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6593C>A	ENSP00000453958.2:p.Pro2198His
ENST00000674301.2:c.6593C>A	ENSP00000501333.2:p.Pro2198His
ENST00000682170.1:n.202C>A
ENST00000316623.10:c.6593C>A MANE Select	ENSP00000325527.5:p.Pro2198His
ENST00000674301.1:c.1592C>A	ENSP00000501333.1:p.Pro531His
ENST00000316623.9:c.6593C>A	ENSP00000325527.5:p.Pro2198His
ENST00000537463.6:c.*2356C>A	ENSP00000440294.2:n.*2356C>A
ENST00000559133.5:c.1900C>A
NM_000138.4:c.6593C>A , LRG_778t1:c.6593C>A	NP_000129.3:p.Pro2198His
NM_000138.5:c.6593C>A MANE Select	NP_000129.3:p.Pro2198His