Canonical Allele Identifier: CA392330463

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720556C>G (hg19) ; chr15:g.48428359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428359C>G , CM000677.2:g.48428359C>G	GRCh38
NC_000015.9:g.48720556C>G , CM000677.1:g.48720556C>G	GRCh37
NC_000015.8:g.46507848C>G	NCBI36
NG_008805.2:g.222430G>C , LRG_778:g.222430G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6984G>C	ENSP00000453958.2:p.Gln2328His
ENST00000674301.2:c.*435G>C	ENSP00000501333.2:n.*435G>C
ENST00000682170.1:n.593G>C
ENST00000682767.1:n.219G>C
ENST00000316623.10:c.6984G>C MANE Select	ENSP00000325527.5:p.Gln2328His
ENST00000674301.1:c.2088G>C	ENSP00000501333.1:n.2088G>C
ENST00000316623.9:c.6984G>C	ENSP00000325527.5:p.Gln2328His
ENST00000559133.5:c.2291G>C
ENST00000560720.1:n.271G>C
NM_000138.4:c.6984G>C , LRG_778t1:c.6984G>C	NP_000129.3:p.Gln2328His
NM_000138.5:c.6984G>C MANE Select	NP_000129.3:p.Gln2328His