Canonical Allele Identifier: CA2628347519

Gene: FBN1

Linked Data

• gnomAD v4: 15-48444525-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444525C>G , CM000677.2:g.48444525C>G	GRCh38
NC_000015.9:g.48736722C>G , CM000677.1:g.48736722C>G	GRCh37
NC_000015.8:g.46524014C>G	NCBI36
NG_008805.2:g.206264G>C , LRG_778:g.206264G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+16G>C	ENSP00000453958.2:n.6037+16G>C
ENST00000674301.2:c.6037+16G>C	ENSP00000501333.2:n.6037+16G>C
ENST00000684448.1:n.4727G>C
ENST00000316623.10:c.6037+16G>C MANE Select	ENSP00000325527.5:n.6037+16G>C
ENST00000674301.1:c.1036+16G>C	ENSP00000501333.1:n.1036+16G>C
ENST00000316623.9:c.6037+16G>C	ENSP00000325527.5:n.6037+16G>C
ENST00000537463.6:c.*1800+16G>C	ENSP00000440294.2:n.*1800+16G>C
ENST00000559133.5:c.1344+16G>C
ENST00000560820.1:n.157+16G>C
NM_000138.4:c.6037+16G>C , LRG_778t1:c.6037+16G>C	NP_000129.3:n.6037+16G>C
NM_000138.5:c.6037+16G>C MANE Select	NP_000129.3:n.6037+16G>C