Canonical Allele Identifier: CA16619946
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423987
ClinVar RCV Id: RCV000486336
dbSNP Id: rs1064796731
MyVariant Identifiers: chr15:g.48733969A>C (hg19) chr15:g.48441772A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441772A>C , CM000677.2:g.48441772A>C GRCh38
NC_000015.9:g.48733969A>C , CM000677.1:g.48733969A>C GRCh37
NC_000015.8:g.46521261A>C NCBI36
NG_008805.2:g.209017T>G , LRG_778:g.209017T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6112T>G ENSP00000453958.2:p.Cys2038Gly
ENST00000674301.2:c.6112T>G ENSP00000501333.2:p.Cys2038Gly
ENST00000316623.10:c.6112T>G MANE Select ENSP00000325527.5:p.Cys2038Gly
ENST00000674301.1:c.1111T>G ENSP00000501333.1:p.Cys371Gly
ENST00000316623.9:c.6112T>G ENSP00000325527.5:p.Cys2038Gly
ENST00000537463.6:c.*1875T>G ENSP00000440294.2:n.*1875T>G
ENST00000559133.5:c.1419T>G
ENST00000560820.1:n.232T>G
NM_000138.4:c.6112T>G , LRG_778t1:c.6112T>G NP_000129.3:p.Cys2038Gly
NM_000138.5:c.6112T>G MANE Select NP_000129.3:p.Cys2038Gly
Search 100 bp 5'
Search 100 bp 3'