Canonical Allele Identifier: CA269518425
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs557225449
gnomAD v2: 15-48701626-A-G
gnomAD v3: 15-48409429-A-G
gnomAD v4: 15-48409429-A-G
MyVariant Identifiers: chr15:g.48701626A>G (hg19) chr15:g.48409429A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409429A>G , CM000677.2:g.48409429A>G GRCh38
NC_000015.9:g.48701626A>G , CM000677.1:g.48701626A>G GRCh37
NC_000015.8:g.46488918A>G NCBI36
NG_008805.2:g.241360T>C , LRG_778:g.241360T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4358T>C
ENST00000682767.1:n.3474T>C
ENST00000316623.10:c.*1561T>C MANE Select ENSP00000325527.5:n.*1561T>C
ENST00000316623.9:c.*1561T>C ENSP00000325527.5:n.*1561T>C
NM_000138.4:c.*1561T>C , LRG_778t1:c.*1561T>C NP_000129.3:n.*1561T>C
NM_000138.5:c.*1561T>C MANE Select NP_000129.3:n.*1561T>C
Search 100 bp 5'
Search 100 bp 3'