Canonical Allele Identifier: CA012802
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200139
ClinVar RCV Id: RCV000181640
dbSNP Id: rs794728289
MyVariant Identifiers: chr15:g.48905242C>G (hg19) chr15:g.48613045C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48613045C>G , CM000677.2:g.48613045C>G GRCh38
NC_000015.9:g.48905242C>G , CM000677.1:g.48905242C>G GRCh37
NC_000015.8:g.46692534C>G NCBI36
NG_008805.2:g.37744G>C , LRG_778:g.37744G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.212G>C ENSP00000453958.2:p.Trp71Ser
ENST00000674301.2:c.212G>C ENSP00000501333.2:p.Trp71Ser
ENST00000316623.10:c.212G>C MANE Select ENSP00000325527.5:p.Trp71Ser
ENST00000316623.9:c.212G>C ENSP00000325527.5:p.Trp71Ser
ENST00000537463.6:c.212G>C ENSP00000440294.2:p.Trp71Ser
NM_000138.4:c.212G>C , LRG_778t1:c.212G>C NP_000129.3:p.Trp71Ser
NM_000138.5:c.212G>C MANE Select NP_000129.3:p.Trp71Ser
Search 100 bp 5'
Search 100 bp 3'