Canonical Allele Identifier: CA050129

Gene: FBN1

Linked Data

• dbSNP Id: rs749727100
• ExAC: 15:48780480 A / G
• gnomAD v2: 15-48780480-A-G
• gnomAD v4: 15-48488283-A-G
• MyVariant Identifiers: chr15:g.48780480A>G (hg19) ; chr15:g.48488283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488283A>G , CM000677.2:g.48488283A>G	GRCh38
NC_000015.9:g.48780480A>G , CM000677.1:g.48780480A>G	GRCh37
NC_000015.8:g.46567772A>G	NCBI36
NG_008805.2:g.162506T>C , LRG_778:g.162506T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3209-42T>C	ENSP00000453958.2:n.3209-42T>C
ENST00000674301.2:c.3209-42T>C	ENSP00000501333.2:n.3209-42T>C
ENST00000684448.1:n.1883-42T>C
ENST00000316623.10:c.3209-42T>C MANE Select	ENSP00000325527.5:n.3209-42T>C
ENST00000316623.9:c.3209-42T>C	ENSP00000325527.5:n.3209-42T>C
ENST00000537463.6:c.637-13633T>C	ENSP00000440294.2:n.637-13633T>C
NM_000138.4:c.3209-42T>C , LRG_778t1:c.3209-42T>C	NP_000129.3:n.3209-42T>C
NM_000138.5:c.3209-42T>C MANE Select	NP_000129.3:n.3209-42T>C