Canonical Allele Identifier: CA269549759
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1049845250
MyVariant Identifiers: chr15:g.48796995G>C (hg19) chr15:g.48504798G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48504798G>C , CM000677.2:g.48504798G>C GRCh38
NC_000015.9:g.48796995G>C , CM000677.1:g.48796995G>C GRCh37
NC_000015.8:g.46584287G>C NCBI36
NG_008805.2:g.145991C>G , LRG_778:g.145991C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1960+227C>G ENSP00000453958.2:n.1960+227C>G
ENST00000674301.2:c.1960+227C>G ENSP00000501333.2:n.1960+227C>G
ENST00000684448.1:n.634+227C>G
ENST00000316623.10:c.1960+227C>G MANE Select ENSP00000325527.5:n.1960+227C>G
ENST00000316623.9:c.1960+227C>G ENSP00000325527.5:n.1960+227C>G
ENST00000537463.6:c.637-30148C>G ENSP00000440294.2:n.637-30148C>G
NM_000138.4:c.1960+227C>G , LRG_778t1:c.1960+227C>G NP_000129.3:n.1960+227C>G
NM_000138.5:c.1960+227C>G MANE Select NP_000129.3:n.1960+227C>G
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