Canonical Allele Identifier: CA617832336
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs78442438
gnomAD v2: 15-48701625-C-T
gnomAD v3: 15-48409428-C-T
gnomAD v4: 15-48409428-C-T
MyVariant Identifiers: chr15:g.48701625C>T (hg19) chr15:g.48409428C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409428C>T , CM000677.2:g.48409428C>T GRCh38
NC_000015.9:g.48701625C>T , CM000677.1:g.48701625C>T GRCh37
NC_000015.8:g.46488917C>T NCBI36
NG_008805.2:g.241361G>A , LRG_778:g.241361G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4359G>A
ENST00000682767.1:n.3475G>A
ENST00000316623.10:c.*1562G>A MANE Select ENSP00000325527.5:n.*1562G>A
ENST00000316623.9:c.*1562G>A ENSP00000325527.5:n.*1562G>A
NM_000138.4:c.*1562G>A , LRG_778t1:c.*1562G>A NP_000129.3:n.*1562G>A
NM_000138.5:c.*1562G>A MANE Select NP_000129.3:n.*1562G>A
Search 100 bp 5'
Search 100 bp 3'