Canonical Allele Identifier: CA2628331687
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48430637-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48430637G>T , CM000677.2:g.48430637G>T GRCh38
NC_000015.9:g.48722834G>T , CM000677.1:g.48722834G>T GRCh37
NC_000015.8:g.46510126G>T NCBI36
NG_008805.2:g.220152C>A , LRG_778:g.220152C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6871+34C>A ENSP00000453958.2:n.6871+34C>A
ENST00000674301.2:c.*322+34C>A ENSP00000501333.2:n.*322+34C>A
ENST00000682170.1:n.480+34C>A
ENST00000316623.10:c.6871+34C>A MANE Select ENSP00000325527.5:n.6871+34C>A
ENST00000674301.1:c.1975+34C>A ENSP00000501333.1:n.1975+34C>A
ENST00000316623.9:c.6871+34C>A ENSP00000325527.5:n.6871+34C>A
ENST00000559133.5:c.2178+34C>A
ENST00000560720.1:n.158+34C>A
NM_000138.4:c.6871+34C>A , LRG_778t1:c.6871+34C>A NP_000129.3:n.6871+34C>A
NM_000138.5:c.6871+34C>A MANE Select NP_000129.3:n.6871+34C>A
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