Canonical Allele Identifier: CA392349988

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2945694
• ClinVar RCV Id: RCV003803788
• MyVariant Identifiers: chr15:g.48756150T>G (hg19) ; chr15:g.48463953T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463953T>G , CM000677.2:g.48463953T>G	GRCh38
NC_000015.9:g.48756150T>G , CM000677.1:g.48756150T>G	GRCh37
NC_000015.8:g.46543442T>G	NCBI36
NG_008805.2:g.186836A>C , LRG_778:g.186836A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5011A>C	ENSP00000453958.2:p.Thr1671Pro
ENST00000674301.2:c.5011A>C	ENSP00000501333.2:p.Thr1671Pro
ENST00000684448.1:n.3685A>C
ENST00000316623.10:c.5011A>C MANE Select	ENSP00000325527.5:p.Thr1671Pro
ENST00000674301.1:c.10A>C	ENSP00000501333.1:p.Thr4Pro
ENST00000316623.9:c.5011A>C	ENSP00000325527.5:p.Thr1671Pro
ENST00000537463.6:c.*774A>C	ENSP00000440294.2:n.*774A>C
ENST00000559133.5:c.318A>C
NM_000138.4:c.5011A>C , LRG_778t1:c.5011A>C	NP_000129.3:p.Thr1671Pro
NM_000138.5:c.5011A>C MANE Select	NP_000129.3:p.Thr1671Pro