Canonical Allele Identifier: CA053301

Gene: FBN1

Linked Data

• dbSNP Id: rs548838534
• ExAC: 15:48760575 T / C
• gnomAD v2: 15-48760575-T-C
• gnomAD v3: 15-48468378-T-C
• gnomAD v4: 15-48468378-T-C
• MyVariant Identifiers: chr15:g.48760575T>C (hg19) ; chr15:g.48468378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468378T>C , CM000677.2:g.48468378T>C	GRCh38
NC_000015.9:g.48760575T>C , CM000677.1:g.48760575T>C	GRCh37
NC_000015.8:g.46547867T>C	NCBI36
NG_008805.2:g.182411A>G , LRG_778:g.182411A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4582+34A>G	ENSP00000453958.2:n.4582+34A>G
ENST00000674301.2:c.4582+34A>G	ENSP00000501333.2:n.4582+34A>G
ENST00000684448.1:n.3256+34A>G
ENST00000316623.10:c.4582+34A>G MANE Select	ENSP00000325527.5:n.4582+34A>G
ENST00000316623.9:c.4582+34A>G	ENSP00000325527.5:n.4582+34A>G
ENST00000537463.6:c.*345+34A>G	ENSP00000440294.2:n.*345+34A>G
NM_000138.4:c.4582+34A>G , LRG_778t1:c.4582+34A>G	NP_000129.3:n.4582+34A>G
NM_000138.5:c.4582+34A>G MANE Select	NP_000129.3:n.4582+34A>G