Canonical Allele Identifier: CA490015847

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421959-G-C
• MyVariant Identifiers: chr15:g.48714156G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421959G>C , CM000677.2:g.48421959G>C	GRCh38
NC_000015.9:g.48714156G>C , CM000677.1:g.48714156G>C	GRCh37
NC_000015.8:g.46501448G>C	NCBI36
NG_008805.2:g.228830C>G , LRG_778:g.228830C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*371C>G	ENSP00000453958.2:n.*371C>G
ENST00000674301.2:c.*1076C>G	ENSP00000501333.2:n.*1076C>G
ENST00000682170.1:n.1744C>G
ENST00000682767.1:n.860C>G
ENST00000316623.10:c.7563C>G MANE Select	ENSP00000325527.5:p.Ser2521=
ENST00000674301.1:c.2729C>G	ENSP00000501333.1:n.2729C>G
ENST00000316623.9:c.7563C>G	ENSP00000325527.5:p.Ser2521=
ENST00000559133.5:c.2932C>G
NM_000138.4:c.7563C>G , LRG_778t1:c.7563C>G	NP_000129.3:p.Ser2521=
NM_000138.5:c.7563C>G MANE Select	NP_000129.3:p.Ser2521=