Canonical Allele Identifier: CA969550593
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v3: 15-48445235-C-A
gnomAD v4: 15-48445235-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445235C>A , CM000677.2:g.48445235C>A GRCh38
NC_000015.9:g.48737432C>A , CM000677.1:g.48737432C>A GRCh37
NC_000015.8:g.46524724C>A NCBI36
NG_008805.2:g.205554G>T , LRG_778:g.205554G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+141G>T ENSP00000453958.2:n.5917+141G>T
ENST00000674301.2:c.5917+141G>T ENSP00000501333.2:n.5917+141G>T
ENST00000684448.1:n.4591+141G>T
ENST00000316623.10:c.5917+141G>T MANE Select ENSP00000325527.5:n.5917+141G>T
ENST00000674301.1:c.916+141G>T ENSP00000501333.1:n.916+141G>T
ENST00000316623.9:c.5917+141G>T ENSP00000325527.5:n.5917+141G>T
ENST00000537463.6:c.*1680+141G>T ENSP00000440294.2:n.*1680+141G>T
ENST00000559133.5:c.1224+141G>T
ENST00000560820.1:n.37+141G>T
NM_000138.4:c.5917+141G>T , LRG_778t1:c.5917+141G>T NP_000129.3:n.5917+141G>T
NM_000138.5:c.5917+141G>T MANE Select NP_000129.3:n.5917+141G>T
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