Canonical Allele Identifier: CA058959

Gene: FBN1

Linked Data

• dbSNP Id: rs748505745
• ExAC: 15:48713846 C / G
• gnomAD v2: 15-48713846-C-G
• gnomAD v4: 15-48421649-C-G
• MyVariant Identifiers: chr15:g.48713846C>G (hg19) ; chr15:g.48421649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421649C>G , CM000677.2:g.48421649C>G	GRCh38
NC_000015.9:g.48713846C>G , CM000677.1:g.48713846C>G	GRCh37
NC_000015.8:g.46501138C>G	NCBI36
NG_008805.2:g.229140G>C , LRG_778:g.229140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*416G>C	ENSP00000453958.2:n.*416G>C
ENST00000674301.2:c.*1121G>C	ENSP00000501333.2:n.*1121G>C
ENST00000682170.1:n.1789G>C
ENST00000682767.1:n.905G>C
ENST00000316623.10:c.7608G>C MANE Select	ENSP00000325527.5:p.Gly2536=
ENST00000674301.1:c.2774G>C	ENSP00000501333.1:n.2774G>C
ENST00000316623.9:c.7608G>C	ENSP00000325527.5:p.Gly2536=
ENST00000559133.5:c.2977G>C
NM_000138.4:c.7608G>C , LRG_778t1:c.7608G>C	NP_000129.3:p.Gly2536=
NM_000138.5:c.7608G>C MANE Select	NP_000129.3:p.Gly2536=