Canonical Allele Identifier: CA617836471
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1346588908
gnomAD v2: 15-48733827-C-T
gnomAD v3: 15-48441630-C-T
gnomAD v4: 15-48441630-C-T
MyVariant Identifiers: chr15:g.48733827C>T (hg19) chr15:g.48441630C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441630C>T , CM000677.2:g.48441630C>T GRCh38
NC_000015.9:g.48733827C>T , CM000677.1:g.48733827C>T GRCh37
NC_000015.8:g.46521119C>T NCBI36
NG_008805.2:g.209159G>A , LRG_778:g.209159G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6163+91G>A ENSP00000453958.2:n.6163+91G>A
ENST00000674301.2:c.6163+91G>A ENSP00000501333.2:n.6163+91G>A
ENST00000316623.10:c.6163+91G>A MANE Select ENSP00000325527.5:n.6163+91G>A
ENST00000674301.1:c.1162+91G>A ENSP00000501333.1:n.1162+91G>A
ENST00000316623.9:c.6163+91G>A ENSP00000325527.5:n.6163+91G>A
ENST00000537463.6:c.*1926+91G>A ENSP00000440294.2:n.*1926+91G>A
ENST00000559133.5:c.1470+91G>A
ENST00000560820.1:n.283+91G>A
NM_000138.4:c.6163+91G>A , LRG_778t1:c.6163+91G>A NP_000129.3:n.6163+91G>A
NM_000138.5:c.6163+91G>A MANE Select NP_000129.3:n.6163+91G>A
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