Canonical Allele Identifier: CA617840439

Gene: FBN1

Linked Data

• dbSNP Id: rs1189809303
• gnomAD v2: 15-48760569-A-G
• gnomAD v4: 15-48468372-A-G
• MyVariant Identifiers: chr15:g.48760569A>G (hg19) ; chr15:g.48468372A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468372A>G , CM000677.2:g.48468372A>G	GRCh38
NC_000015.9:g.48760569A>G , CM000677.1:g.48760569A>G	GRCh37
NC_000015.8:g.46547861A>G	NCBI36
NG_008805.2:g.182417T>C , LRG_778:g.182417T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4582+40T>C	ENSP00000453958.2:n.4582+40T>C
ENST00000674301.2:c.4582+40T>C	ENSP00000501333.2:n.4582+40T>C
ENST00000684448.1:n.3256+40T>C
ENST00000316623.10:c.4582+40T>C MANE Select	ENSP00000325527.5:n.4582+40T>C
ENST00000316623.9:c.4582+40T>C	ENSP00000325527.5:n.4582+40T>C
ENST00000537463.6:c.*345+40T>C	ENSP00000440294.2:n.*345+40T>C
NM_000138.4:c.4582+40T>C , LRG_778t1:c.4582+40T>C	NP_000129.3:n.4582+40T>C
NM_000138.5:c.4582+40T>C MANE Select	NP_000129.3:n.4582+40T>C