Canonical Allele Identifier: CA2175511848

Gene: FBN1

Linked Data

• dbSNP Id: rs2043138724
• gnomAD v4: 15-48444501-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444501C>A , CM000677.2:g.48444501C>A	GRCh38
NC_000015.9:g.48736698C>A , CM000677.1:g.48736698C>A	GRCh37
NC_000015.8:g.46523990C>A	NCBI36
NG_008805.2:g.206288G>T , LRG_778:g.206288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+40G>T	ENSP00000453958.2:n.6037+40G>T
ENST00000674301.2:c.6037+40G>T	ENSP00000501333.2:n.6037+40G>T
ENST00000684448.1:n.4751G>T
ENST00000316623.10:c.6037+40G>T MANE Select	ENSP00000325527.5:n.6037+40G>T
ENST00000674301.1:c.1036+40G>T	ENSP00000501333.1:n.1036+40G>T
ENST00000316623.9:c.6037+40G>T	ENSP00000325527.5:n.6037+40G>T
ENST00000537463.6:c.*1800+40G>T	ENSP00000440294.2:n.*1800+40G>T
ENST00000559133.5:c.1344+40G>T
ENST00000560820.1:n.157+40G>T
NM_000138.4:c.6037+40G>T , LRG_778t1:c.6037+40G>T	NP_000129.3:n.6037+40G>T
NM_000138.5:c.6037+40G>T MANE Select	NP_000129.3:n.6037+40G>T