Canonical Allele Identifier: CA2804070548
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430616C>A , CM000677.2:g.48430616C>A GRCh38
NC_000015.9:g.48722813C>A , CM000677.1:g.48722813C>A GRCh37
NC_000015.8:g.46510105C>A NCBI36
NG_008805.2:g.220173G>T , LRG_778:g.220173G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6871+55G>T ENSP00000453958.2:n.6871+55G>T
ENST00000674301.2:c.*322+55G>T ENSP00000501333.2:n.*322+55G>T
ENST00000682170.1:n.480+55G>T
ENST00000316623.10:c.6871+55G>T MANE Select ENSP00000325527.5:n.6871+55G>T
ENST00000674301.1:c.1975+55G>T ENSP00000501333.1:n.1975+55G>T
ENST00000316623.9:c.6871+55G>T ENSP00000325527.5:n.6871+55G>T
ENST00000559133.5:c.2178+55G>T
ENST00000560720.1:n.158+55G>T
NM_000138.4:c.6871+55G>T , LRG_778t1:c.6871+55G>T NP_000129.3:n.6871+55G>T
NM_000138.5:c.6871+55G>T MANE Select NP_000129.3:n.6871+55G>T
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