Canonical Allele Identifier: CA2804072640

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509042T>C , CM000677.2:g.48509042T>C	GRCh38
NC_000015.9:g.48801239T>C , CM000677.1:g.48801239T>C	GRCh37
NC_000015.8:g.46588531T>C	NCBI36
NG_008805.2:g.141747A>G , LRG_778:g.141747A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-338A>G	ENSP00000453958.2:n.1715-338A>G
ENST00000674301.2:c.1715-338A>G	ENSP00000501333.2:n.1715-338A>G
ENST00000684448.1:n.389-338A>G
ENST00000316623.10:c.1715-338A>G MANE Select	ENSP00000325527.5:n.1715-338A>G
ENST00000316623.9:c.1715-338A>G	ENSP00000325527.5:n.1715-338A>G
ENST00000537463.6:c.636+28669A>G	ENSP00000440294.2:n.636+28669A>G
NM_000138.4:c.1715-338A>G , LRG_778t1:c.1715-338A>G	NP_000129.3:n.1715-338A>G
NM_000138.5:c.1715-338A>G MANE Select	NP_000129.3:n.1715-338A>G