Canonical Allele Identifier: CA392325860

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714165G>C (hg19) ; chr15:g.48421968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421968G>C , CM000677.2:g.48421968G>C	GRCh38
NC_000015.9:g.48714165G>C , CM000677.1:g.48714165G>C	GRCh37
NC_000015.8:g.46501457G>C	NCBI36
NG_008805.2:g.228821C>G , LRG_778:g.228821C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*362C>G	ENSP00000453958.2:n.*362C>G
ENST00000674301.2:c.*1067C>G	ENSP00000501333.2:n.*1067C>G
ENST00000682170.1:n.1735C>G
ENST00000682767.1:n.851C>G
ENST00000316623.10:c.7554C>G MANE Select	ENSP00000325527.5:p.His2518Gln
ENST00000674301.1:c.2720C>G	ENSP00000501333.1:n.2720C>G
ENST00000316623.9:c.7554C>G	ENSP00000325527.5:p.His2518Gln
ENST00000559133.5:c.2923C>G
NM_000138.4:c.7554C>G , LRG_778t1:c.7554C>G	NP_000129.3:p.His2518Gln
NM_000138.5:c.7554C>G MANE Select	NP_000129.3:p.His2518Gln