Canonical Allele Identifier: CA269572917
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs779522635
gnomAD v4: 15-48534042-C-T
MyVariant Identifiers: chr15:g.48534042C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48534042C>T , CM000677.2:g.48534042C>T GRCh38
NC_000015.9:g.48826239C>T , CM000677.1:g.48826239C>T GRCh37
NC_000015.8:g.46613531C>T NCBI36
NG_008805.2:g.116747G>A , LRG_778:g.116747G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.862+38G>A ENSP00000453958.2:n.862+38G>A
ENST00000674301.2:c.862+38G>A ENSP00000501333.2:n.862+38G>A
ENST00000316623.10:c.862+38G>A MANE Select ENSP00000325527.5:n.862+38G>A
ENST00000316623.9:c.862+38G>A ENSP00000325527.5:n.862+38G>A
ENST00000537463.6:c.636+3669G>A ENSP00000440294.2:n.636+3669G>A
NM_000138.4:c.862+38G>A , LRG_778t1:c.862+38G>A NP_000129.3:n.862+38G>A
NM_000138.5:c.862+38G>A MANE Select NP_000129.3:n.862+38G>A
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