Canonical Allele Identifier: CA915946638

Gene: FBN1

Linked Data

• ClinVar Variation Id: 755709
• ClinVar RCV Id: RCV001414947
• dbSNP Id: rs1597520513

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430664C>G , CM000677.2:g.48430664C>G	GRCh38
NC_000015.9:g.48722861C>G , CM000677.1:g.48722861C>G	GRCh37
NC_000015.8:g.46510153C>G	NCBI36
NG_008805.2:g.220125G>C , LRG_778:g.220125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6871+7G>C	ENSP00000453958.2:n.6871+7G>C
ENST00000674301.2:c.*322+7G>C	ENSP00000501333.2:n.*322+7G>C
ENST00000682170.1:n.480+7G>C
ENST00000316623.10:c.6871+7G>C MANE Select	ENSP00000325527.5:n.6871+7G>C
ENST00000674301.1:c.1975+7G>C	ENSP00000501333.1:n.1975+7G>C
ENST00000316623.9:c.6871+7G>C	ENSP00000325527.5:n.6871+7G>C
ENST00000559133.5:c.2178+7G>C
ENST00000560720.1:n.158+7G>C
NM_000138.4:c.6871+7G>C , LRG_778t1:c.6871+7G>C	NP_000129.3:n.6871+7G>C
NM_000138.5:c.6871+7G>C MANE Select	NP_000129.3:n.6871+7G>C