Canonical Allele Identifier: CA2581214116
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408950A>C , CM000677.2:g.48408950A>C GRCh38
NC_000015.9:g.48701147A>C , CM000677.1:g.48701147A>C GRCh37
NC_000015.8:g.46488439A>C NCBI36
NG_008805.2:g.241839T>G , LRG_778:g.241839T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4837T>G
ENST00000682767.1:n.3953T>G
ENST00000316623.10:c.*2040T>G MANE Select ENSP00000325527.5:n.*2040T>G
ENST00000316623.9:c.*2040T>G ENSP00000325527.5:n.*2040T>G
NM_000138.4:c.*2040T>G , LRG_778t1:c.*2040T>G NP_000129.3:n.*2040T>G
NM_000138.5:c.*2040T>G MANE Select NP_000129.3:n.*2040T>G
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