Canonical Allele Identifier: CA969550627
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043149269
gnomAD v3: 15-48445312-T-A
gnomAD v4: 15-48445312-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445312T>A , CM000677.2:g.48445312T>A GRCh38
NC_000015.9:g.48737509T>A , CM000677.1:g.48737509T>A GRCh37
NC_000015.8:g.46524801T>A NCBI36
NG_008805.2:g.205477A>T , LRG_778:g.205477A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+64A>T ENSP00000453958.2:n.5917+64A>T
ENST00000674301.2:c.5917+64A>T ENSP00000501333.2:n.5917+64A>T
ENST00000684448.1:n.4591+64A>T
ENST00000316623.10:c.5917+64A>T MANE Select ENSP00000325527.5:n.5917+64A>T
ENST00000674301.1:c.916+64A>T ENSP00000501333.1:n.916+64A>T
ENST00000316623.9:c.5917+64A>T ENSP00000325527.5:n.5917+64A>T
ENST00000537463.6:c.*1680+64A>T ENSP00000440294.2:n.*1680+64A>T
ENST00000559133.5:c.1224+64A>T
ENST00000560820.1:n.37+64A>T
NM_000138.4:c.5917+64A>T , LRG_778t1:c.5917+64A>T NP_000129.3:n.5917+64A>T
NM_000138.5:c.5917+64A>T MANE Select NP_000129.3:n.5917+64A>T
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