Canonical Allele Identifier: CA392341243
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48802328T>G (hg19) chr15:g.48510131T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48510131T>G , CM000677.2:g.48510131T>G GRCh38
NC_000015.9:g.48802328T>G , CM000677.1:g.48802328T>G GRCh37
NC_000015.8:g.46589620T>G NCBI36
NG_008805.2:g.140658A>C , LRG_778:g.140658A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1627A>C ENSP00000453958.2:p.Asn543His
ENST00000674301.2:c.1627A>C ENSP00000501333.2:p.Asn543His
ENST00000684448.1:n.301A>C
ENST00000316623.10:c.1627A>C MANE Select ENSP00000325527.5:p.Asn543His
ENST00000316623.9:c.1627A>C ENSP00000325527.5:p.Asn543His
ENST00000537463.6:c.636+27580A>C ENSP00000440294.2:n.636+27580A>C
NM_000138.4:c.1627A>C , LRG_778t1:c.1627A>C NP_000129.3:p.Asn543His
NM_000138.5:c.1627A>C MANE Select NP_000129.3:p.Asn543His
Search 100 bp 5'
Search 100 bp 3'