Canonical Allele Identifier: CA10642078
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316310
ClinVar RCV Id: RCV000264532 RCV000309412 RCV000313560 RCV000359463 RCV000362911 RCV000402950 RCV000406604 RCV001597076
dbSNP Id: rs11070641
gnomAD v2: 15-48701029-C-T
gnomAD v3: 15-48408832-C-T
gnomAD v4: 15-48408832-C-T
MyVariant Identifiers: chr15:g.48701029C>T (hg19) chr15:g.48408832C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408832C>T , CM000677.2:g.48408832C>T GRCh38
NC_000015.9:g.48701029C>T , CM000677.1:g.48701029C>T GRCh37
NC_000015.8:g.46488321C>T NCBI36
NG_008805.2:g.241957G>A , LRG_778:g.241957G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4955G>A
ENST00000682767.1:n.4071G>A
ENST00000316623.10:c.*2158G>A MANE Select ENSP00000325527.5:n.*2158G>A
ENST00000316623.9:c.*2158G>A ENSP00000325527.5:n.*2158G>A
NM_000138.4:c.*2158G>A , LRG_778t1:c.*2158G>A NP_000129.3:n.*2158G>A
NM_000138.5:c.*2158G>A MANE Select NP_000129.3:n.*2158G>A
Search 100 bp 5'
Search 100 bp 3'