Canonical Allele Identifier: CA490013383
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48764767A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472570A>C , CM000677.2:g.48472570A>C GRCh38
NC_000015.9:g.48764767A>C , CM000677.1:g.48764767A>C GRCh37
NC_000015.8:g.46552059A>C NCBI36
NG_008805.2:g.178219T>G , LRG_778:g.178219T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4317T>G ENSP00000453958.2:p.Ala1439=
ENST00000674301.2:c.4317T>G ENSP00000501333.2:p.Ala1439=
ENST00000683268.1:n.284T>G
ENST00000684448.1:n.2991T>G
ENST00000316623.10:c.4317T>G MANE Select ENSP00000325527.5:p.Ala1439=
ENST00000316623.9:c.4317T>G ENSP00000325527.5:p.Ala1439=
ENST00000537463.6:c.*80T>G ENSP00000440294.2:n.*80T>G
NM_000138.4:c.4317T>G , LRG_778t1:c.4317T>G NP_000129.3:p.Ala1439=
NM_000138.5:c.4317T>G MANE Select NP_000129.3:p.Ala1439=
Search 100 bp 5'
Search 100 bp 3'