Canonical Allele Identifier: CA490018463
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48725064T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48432867T>C , CM000677.2:g.48432867T>C GRCh38
NC_000015.9:g.48725064T>C , CM000677.1:g.48725064T>C GRCh37
NC_000015.8:g.46512356T>C NCBI36
NG_008805.2:g.217922A>G , LRG_778:g.217922A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6738A>G ENSP00000453958.2:p.Lys2246=
ENST00000674301.2:c.*189A>G ENSP00000501333.2:n.*189A>G
ENST00000682170.1:n.347A>G
ENST00000316623.10:c.6738A>G MANE Select ENSP00000325527.5:p.Lys2246=
ENST00000674301.1:c.1842A>G ENSP00000501333.1:n.1842A>G
ENST00000316623.9:c.6738A>G ENSP00000325527.5:p.Lys2246=
ENST00000537463.6:c.*2501A>G ENSP00000440294.2:n.*2501A>G
ENST00000559133.5:c.2045A>G
ENST00000560720.1:n.25A>G
NM_000138.4:c.6738A>G , LRG_778t1:c.6738A>G NP_000129.3:p.Lys2246=
NM_000138.5:c.6738A>G MANE Select NP_000129.3:p.Lys2246=
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