Canonical Allele Identifier: CA057299
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 633210
ClinVar RCV Id: RCV000781362 RCV001856195 RCV004001530
dbSNP Id: rs780960909
ExAC: 15:48725070 C / T
gnomAD v2: 15-48725070-C-T
gnomAD v3: 15-48432873-C-T
gnomAD v4: 15-48432873-C-T
MyVariant Identifiers: chr15:g.48725070C>T (hg19) chr15:g.48432873C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48432873C>T , CM000677.2:g.48432873C>T GRCh38
NC_000015.9:g.48725070C>T , CM000677.1:g.48725070C>T GRCh37
NC_000015.8:g.46512362C>T NCBI36
NG_008805.2:g.217916G>A , LRG_778:g.217916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6732G>A ENSP00000453958.2:p.Met2244Ile
ENST00000674301.2:c.*183G>A ENSP00000501333.2:n.*183G>A
ENST00000682170.1:n.341G>A
ENST00000316623.10:c.6732G>A MANE Select ENSP00000325527.5:p.Met2244Ile
ENST00000674301.1:c.1836G>A ENSP00000501333.1:n.1836G>A
ENST00000316623.9:c.6732G>A ENSP00000325527.5:p.Met2244Ile
ENST00000537463.6:c.*2495G>A ENSP00000440294.2:n.*2495G>A
ENST00000559133.5:c.2039G>A
ENST00000560720.1:n.19G>A
NM_000138.4:c.6732G>A , LRG_778t1:c.6732G>A NP_000129.3:p.Met2244Ile
NM_000138.5:c.6732G>A MANE Select NP_000129.3:p.Met2244Ile
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