Canonical Allele Identifier: CA2804070144

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434460T>C , CM000677.2:g.48434460T>C	GRCh38
NC_000015.9:g.48726657T>C , CM000677.1:g.48726657T>C	GRCh37
NC_000015.8:g.46513949T>C	NCBI36
NG_008805.2:g.216329A>G , LRG_778:g.216329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+134A>G	ENSP00000453958.2:n.6616+134A>G
ENST00000674301.2:c.6616+134A>G	ENSP00000501333.2:n.6616+134A>G
ENST00000682170.1:n.225+134A>G
ENST00000316623.10:c.6616+134A>G MANE Select	ENSP00000325527.5:n.6616+134A>G
ENST00000674301.1:c.1615+134A>G	ENSP00000501333.1:n.1615+134A>G
ENST00000316623.9:c.6616+134A>G	ENSP00000325527.5:n.6616+134A>G
ENST00000537463.6:c.*2379+134A>G	ENSP00000440294.2:n.*2379+134A>G
ENST00000559133.5:c.1923+134A>G
NM_000138.4:c.6616+134A>G , LRG_778t1:c.6616+134A>G	NP_000129.3:n.6616+134A>G
NM_000138.5:c.6616+134A>G MANE Select	NP_000129.3:n.6616+134A>G