Canonical Allele Identifier: CA392328062

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425483C>G , CM000677.2:g.48425483C>G	GRCh38
NC_000015.9:g.48717680C>G , CM000677.1:g.48717680C>G	GRCh37
NC_000015.8:g.46504972C>G	NCBI36
NG_008805.2:g.225306G>C , LRG_778:g.225306G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7339G>C MANE Select	NP_000129.3:p.Glu2447Gln
ENST00000316623.10:c.7339G>C MANE Select	ENSP00000325527.5:p.Glu2447Gln
NM_000138.4:c.7339G>C , LRG_778t1:c.7339G>C	NP_000129.3:p.Glu2447Gln
ENST00000316623.9:c.7339G>C	ENSP00000325527.5:p.Glu2447Gln
ENST00000559133.5:c.2708G>C
ENST00000559133.6:c.*147G>C	ENSP00000453958.2:n.*147G>C
ENST00000674301.1:c.2505G>C	ENSP00000501333.1:n.2505G>C
ENST00000674301.2:c.*852G>C	ENSP00000501333.2:n.*852G>C
ENST00000682170.1:n.1520G>C
ENST00000682767.1:n.636G>C