Canonical Allele Identifier: CA16607810

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494209C>G , CM000677.2:g.48494209C>G	GRCh38
NC_000015.9:g.48786406C>G , CM000677.1:g.48786406C>G	GRCh37
NC_000015.8:g.46573698C>G	NCBI36
NG_008805.2:g.156580G>C , LRG_778:g.156580G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.2723G>C MANE Select	NP_000129.3:p.Cys908Ser
ENST00000316623.10:c.2723G>C MANE Select	ENSP00000325527.5:p.Cys908Ser
NM_000138.4:c.2723G>C , LRG_778t1:c.2723G>C	NP_000129.3:p.Cys908Ser
ENST00000316623.9:c.2723G>C	ENSP00000325527.5:p.Cys908Ser
ENST00000537463.6:c.637-19559G>C	ENSP00000440294.2:n.637-19559G>C
ENST00000559133.6:c.2723G>C	ENSP00000453958.2:p.Cys908Ser
ENST00000674301.2:c.2723G>C	ENSP00000501333.2:p.Cys908Ser
ENST00000684448.1:n.1397G>C