Canonical Allele Identifier: CA050144

Gene: FBN1

Linked Data

• dbSNP Id: rs373650255
• ExAC: 15:48780483 C / T
• gnomAD v2: 15-48780483-C-T
• MyVariant Identifiers: chr15:g.48780483C>T (hg19) ; chr15:g.48488286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488286C>T , CM000677.2:g.48488286C>T	GRCh38
NC_000015.9:g.48780483C>T , CM000677.1:g.48780483C>T	GRCh37
NC_000015.8:g.46567775C>T	NCBI36
NG_008805.2:g.162503G>A , LRG_778:g.162503G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3209-45G>A	ENSP00000453958.2:n.3209-45G>A
ENST00000674301.2:c.3209-45G>A	ENSP00000501333.2:n.3209-45G>A
ENST00000684448.1:n.1883-45G>A
ENST00000316623.10:c.3209-45G>A MANE Select	ENSP00000325527.5:n.3209-45G>A
ENST00000316623.9:c.3209-45G>A	ENSP00000325527.5:n.3209-45G>A
ENST00000537463.6:c.637-13636G>A	ENSP00000440294.2:n.637-13636G>A
NM_000138.4:c.3209-45G>A , LRG_778t1:c.3209-45G>A	NP_000129.3:n.3209-45G>A
NM_000138.5:c.3209-45G>A MANE Select	NP_000129.3:n.3209-45G>A