Canonical Allele Identifier: CA392317904
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48764826A>C (hg19) chr15:g.48472629A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472629A>C , CM000677.2:g.48472629A>C GRCh38
NC_000015.9:g.48764826A>C , CM000677.1:g.48764826A>C GRCh37
NC_000015.8:g.46552118A>C NCBI36
NG_008805.2:g.178160T>G , LRG_778:g.178160T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4258T>G ENSP00000453958.2:p.Cys1420Gly
ENST00000674301.2:c.4258T>G ENSP00000501333.2:p.Cys1420Gly
ENST00000683268.1:n.225T>G
ENST00000684448.1:n.2932T>G
ENST00000316623.10:c.4258T>G MANE Select ENSP00000325527.5:p.Cys1420Gly
ENST00000316623.9:c.4258T>G ENSP00000325527.5:p.Cys1420Gly
ENST00000537463.6:c.*21T>G ENSP00000440294.2:n.*21T>G
NM_000138.4:c.4258T>G , LRG_778t1:c.4258T>G NP_000129.3:p.Cys1420Gly
NM_000138.5:c.4258T>G MANE Select NP_000129.3:p.Cys1420Gly
Search 100 bp 5'
Search 100 bp 3'