Canonical Allele Identifier: CA2628334131
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48472448-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472448C>G , CM000677.2:g.48472448C>G GRCh38
NC_000015.9:g.48764645C>G , CM000677.1:g.48764645C>G GRCh37
NC_000015.8:g.46551937C>G NCBI36
NG_008805.2:g.178341G>C , LRG_778:g.178341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4336+103G>C ENSP00000453958.2:n.4336+103G>C
ENST00000674301.2:c.4336+103G>C ENSP00000501333.2:n.4336+103G>C
ENST00000683268.1:n.303+103G>C
ENST00000684448.1:n.3010+103G>C
ENST00000316623.10:c.4336+103G>C MANE Select ENSP00000325527.5:n.4336+103G>C
ENST00000316623.9:c.4336+103G>C ENSP00000325527.5:n.4336+103G>C
ENST00000537463.6:c.*99+103G>C ENSP00000440294.2:n.*99+103G>C
NM_000138.4:c.4336+103G>C , LRG_778t1:c.4336+103G>C NP_000129.3:n.4336+103G>C
NM_000138.5:c.4336+103G>C MANE Select NP_000129.3:n.4336+103G>C
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