Canonical Allele Identifier: CA269530617

Gene: FBN1

Linked Data

• dbSNP Id: rs936359733
• gnomAD v3: 15-48441650-A-G
• gnomAD v4: 15-48441650-A-G
• MyVariant Identifiers: chr15:g.48733847A>G (hg19) ; chr15:g.48441650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441650A>G , CM000677.2:g.48441650A>G	GRCh38
NC_000015.9:g.48733847A>G , CM000677.1:g.48733847A>G	GRCh37
NC_000015.8:g.46521139A>G	NCBI36
NG_008805.2:g.209139T>C , LRG_778:g.209139T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6163+71T>C	ENSP00000453958.2:n.6163+71T>C
ENST00000674301.2:c.6163+71T>C	ENSP00000501333.2:n.6163+71T>C
ENST00000316623.10:c.6163+71T>C MANE Select	ENSP00000325527.5:n.6163+71T>C
ENST00000674301.1:c.1162+71T>C	ENSP00000501333.1:n.1162+71T>C
ENST00000316623.9:c.6163+71T>C	ENSP00000325527.5:n.6163+71T>C
ENST00000537463.6:c.*1926+71T>C	ENSP00000440294.2:n.*1926+71T>C
ENST00000559133.5:c.1470+71T>C
ENST00000560820.1:n.283+71T>C
NM_000138.4:c.6163+71T>C , LRG_778t1:c.6163+71T>C	NP_000129.3:n.6163+71T>C
NM_000138.5:c.6163+71T>C MANE Select	NP_000129.3:n.6163+71T>C