Canonical Allele Identifier: CA713387099

Gene: FBN1

Linked Data

• dbSNP Id: rs1304016020
• gnomAD v3: 15-48488306-G-A
• gnomAD v4: 15-48488306-G-A
• MyVariant Identifiers: chr15:g.48780503G>A (hg19) ; chr15:g.48488306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488306G>A , CM000677.2:g.48488306G>A	GRCh38
NC_000015.9:g.48780503G>A , CM000677.1:g.48780503G>A	GRCh37
NC_000015.8:g.46567795G>A	NCBI36
NG_008805.2:g.162483C>T , LRG_778:g.162483C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3208+62C>T	ENSP00000453958.2:n.3208+62C>T
ENST00000674301.2:c.3208+62C>T	ENSP00000501333.2:n.3208+62C>T
ENST00000684448.1:n.1882+62C>T
ENST00000316623.10:c.3208+62C>T MANE Select	ENSP00000325527.5:n.3208+62C>T
ENST00000316623.9:c.3208+62C>T	ENSP00000325527.5:n.3208+62C>T
ENST00000537463.6:c.637-13656C>T	ENSP00000440294.2:n.637-13656C>T
NM_000138.4:c.3208+62C>T , LRG_778t1:c.3208+62C>T	NP_000129.3:n.3208+62C>T
NM_000138.5:c.3208+62C>T MANE Select	NP_000129.3:n.3208+62C>T