Canonical Allele Identifier: CA269532447
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs545568815
gnomAD v2: 15-48737334-C-T
gnomAD v3: 15-48445137-C-T
gnomAD v4: 15-48445137-C-T
MyVariant Identifiers: chr15:g.48737334C>T (hg19) chr15:g.48445137C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445137C>T , CM000677.2:g.48445137C>T GRCh38
NC_000015.9:g.48737334C>T , CM000677.1:g.48737334C>T GRCh37
NC_000015.8:g.46524626C>T NCBI36
NG_008805.2:g.205652G>A , LRG_778:g.205652G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+239G>A ENSP00000453958.2:n.5917+239G>A
ENST00000674301.2:c.5917+239G>A ENSP00000501333.2:n.5917+239G>A
ENST00000684448.1:n.4591+239G>A
ENST00000316623.10:c.5917+239G>A MANE Select ENSP00000325527.5:n.5917+239G>A
ENST00000674301.1:c.916+239G>A ENSP00000501333.1:n.916+239G>A
ENST00000316623.9:c.5917+239G>A ENSP00000325527.5:n.5917+239G>A
ENST00000537463.6:c.*1680+239G>A ENSP00000440294.2:n.*1680+239G>A
ENST00000559133.5:c.1224+239G>A
ENST00000560820.1:n.37+239G>A
NM_000138.4:c.5917+239G>A , LRG_778t1:c.5917+239G>A NP_000129.3:n.5917+239G>A
NM_000138.5:c.5917+239G>A MANE Select NP_000129.3:n.5917+239G>A
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