Canonical Allele Identifier: CA2628334949
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2936233
ClinVar RCV Id: RCV003796519
gnomAD v4: 15-48494191-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48494191T>C , CM000677.2:g.48494191T>C GRCh38
NC_000015.9:g.48786388T>C , CM000677.1:g.48786388T>C GRCh37
NC_000015.8:g.46573680T>C NCBI36
NG_008805.2:g.156598A>G , LRG_778:g.156598A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2728+13A>G ENSP00000453958.2:n.2728+13A>G
ENST00000674301.2:c.2728+13A>G ENSP00000501333.2:n.2728+13A>G
ENST00000684448.1:n.1402+13A>G
ENST00000316623.10:c.2728+13A>G MANE Select ENSP00000325527.5:n.2728+13A>G
ENST00000316623.9:c.2728+13A>G ENSP00000325527.5:n.2728+13A>G
ENST00000537463.6:c.637-19541A>G ENSP00000440294.2:n.637-19541A>G
NM_000138.4:c.2728+13A>G , LRG_778t1:c.2728+13A>G NP_000129.3:n.2728+13A>G
NM_000138.5:c.2728+13A>G MANE Select NP_000129.3:n.2728+13A>G
Search 100 bp 5'
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