Canonical Allele Identifier: CA490014716

Gene: FBN1

Linked Data

• gnomAD v4: 15-48412671-A-G
• MyVariant Identifiers: chr15:g.48704868A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412671A>G , CM000677.2:g.48412671A>G	GRCh38
NC_000015.9:g.48704868A>G , CM000677.1:g.48704868A>G	GRCh37
NC_000015.8:g.46492160A>G	NCBI36
NG_008805.2:g.238118T>C , LRG_778:g.238118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*932T>C	ENSP00000453958.2:n.*932T>C
ENST00000674301.2:c.*1637T>C	ENSP00000501333.2:n.*1637T>C
ENST00000682158.1:n.1505T>C
ENST00000682170.1:n.2305T>C
ENST00000682767.1:n.1421T>C
ENST00000316623.10:c.8124T>C MANE Select	ENSP00000325527.5:p.Asn2708=
ENST00000674301.1:c.3290T>C	ENSP00000501333.1:n.3290T>C
ENST00000316623.9:c.8124T>C	ENSP00000325527.5:p.Asn2708=
ENST00000559133.5:c.3493T>C
ENST00000561429.1:n.379T>C
NM_000138.4:c.8124T>C , LRG_778t1:c.8124T>C	NP_000129.3:p.Asn2708=
NM_000138.5:c.8124T>C MANE Select	NP_000129.3:p.Asn2708=