Canonical Allele Identifier: CA2175463247

Gene: FBN1

Linked Data

• dbSNP Id: rs1597513253

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421552A>C , CM000677.2:g.48421552A>C	GRCh38
NC_000015.9:g.48713749A>C , CM000677.1:g.48713749A>C	GRCh37
NC_000015.8:g.46501041A>C	NCBI36
NG_008805.2:g.229237T>G , LRG_778:g.229237T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+6T>G	ENSP00000453958.2:n.*507+6T>G
ENST00000674301.2:c.*1212+6T>G	ENSP00000501333.2:n.*1212+6T>G
ENST00000682170.1:n.1880+6T>G
ENST00000682767.1:n.996+6T>G
ENST00000316623.10:c.7699+6T>G MANE Select	ENSP00000325527.5:n.7699+6T>G
ENST00000674301.1:c.2865+6T>G	ENSP00000501333.1:n.2865+6T>G
ENST00000316623.9:c.7699+6T>G	ENSP00000325527.5:n.7699+6T>G
ENST00000559133.5:c.3068+6T>G
NM_000138.4:c.7699+6T>G , LRG_778t1:c.7699+6T>G	NP_000129.3:n.7699+6T>G
NM_000138.5:c.7699+6T>G MANE Select	NP_000129.3:n.7699+6T>G