Canonical Allele Identifier: CA392340231
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1120214
ClinVar RCV Id: RCV001449962
dbSNP Id: rs794728176
MyVariant Identifiers: chr15:g.48800799G>C (hg19) chr15:g.48508602G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48508602G>C , CM000677.2:g.48508602G>C GRCh38
NC_000015.9:g.48800799G>C , CM000677.1:g.48800799G>C GRCh37
NC_000015.8:g.46588091G>C NCBI36
NG_008805.2:g.142187C>G , LRG_778:g.142187C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1817C>G ENSP00000453958.2:p.Ser606Ter
ENST00000674301.2:c.1817C>G ENSP00000501333.2:p.Ser606Ter
ENST00000684448.1:n.491C>G
ENST00000316623.10:c.1817C>G MANE Select ENSP00000325527.5:p.Ser606Ter
ENST00000316623.9:c.1817C>G ENSP00000325527.5:p.Ser606Ter
ENST00000537463.6:c.636+29109C>G ENSP00000440294.2:n.636+29109C>G
NM_000138.4:c.1817C>G , LRG_778t1:c.1817C>G NP_000129.3:p.Ser606Ter
NM_000138.5:c.1817C>G MANE Select NP_000129.3:p.Ser606Ter
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Search 100 bp 3'