Canonical Allele Identifier: CA16619947
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423795
ClinVar RCV Id: RCV000478107 RCV002356789
dbSNP Id: rs1064796636
MyVariant Identifiers: chr15:g.48736737C>T (hg19) chr15:g.48444540C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48444540C>T , CM000677.2:g.48444540C>T GRCh38
NC_000015.9:g.48736737C>T , CM000677.1:g.48736737C>T GRCh37
NC_000015.8:g.46524029C>T NCBI36
NG_008805.2:g.206249G>A , LRG_778:g.206249G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6037+1G>A ENSP00000453958.2:n.6037+1G>A
ENST00000674301.2:c.6037+1G>A ENSP00000501333.2:n.6037+1G>A
ENST00000684448.1:n.4712G>A
ENST00000316623.10:c.6037+1G>A MANE Select ENSP00000325527.5:n.6037+1G>A
ENST00000674301.1:c.1036+1G>A ENSP00000501333.1:n.1036+1G>A
ENST00000316623.9:c.6037+1G>A ENSP00000325527.5:n.6037+1G>A
ENST00000537463.6:c.*1800+1G>A ENSP00000440294.2:n.*1800+1G>A
ENST00000559133.5:c.1344+1G>A
ENST00000560820.1:n.157+1G>A
NM_000138.4:c.6037+1G>A , LRG_778t1:c.6037+1G>A NP_000129.3:n.6037+1G>A
NM_000138.5:c.6037+1G>A MANE Select NP_000129.3:n.6037+1G>A
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