Canonical Allele Identifier: CA10646170
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316334
ClinVar RCV Id: RCV000263239 RCV000264723 RCV000268174 RCV000299626 RCV000323148 RCV000367086 RCV000377838
dbSNP Id: rs886051234
gnomAD v3: 15-48409592-C-G
gnomAD v4: 15-48409592-C-G
MyVariant Identifiers: chr15:g.48701789C>G (hg19) chr15:g.48409592C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409592C>G , CM000677.2:g.48409592C>G GRCh38
NC_000015.9:g.48701789C>G , CM000677.1:g.48701789C>G GRCh37
NC_000015.8:g.46489081C>G NCBI36
NG_008805.2:g.241197G>C , LRG_778:g.241197G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4195G>C
ENST00000682767.1:n.3311G>C
ENST00000316623.10:c.*1398G>C MANE Select ENSP00000325527.5:n.*1398G>C
ENST00000316623.9:c.*1398G>C ENSP00000325527.5:n.*1398G>C
NM_000138.4:c.*1398G>C , LRG_778t1:c.*1398G>C NP_000129.3:n.*1398G>C
NM_000138.5:c.*1398G>C MANE Select NP_000129.3:n.*1398G>C
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