Canonical Allele Identifier: CA2573150767

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1446621
• ClinVar RCV Id: RCV001987754
• dbSNP Id: rs2141315610

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503783A>G , CM000677.2:g.48503783A>G	GRCh38
NC_000015.9:g.48795980A>G , CM000677.1:g.48795980A>G	GRCh37
NC_000015.8:g.46583272A>G	NCBI36
NG_008805.2:g.147006T>C , LRG_778:g.147006T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2113+4T>C	ENSP00000453958.2:n.2113+4T>C
ENST00000674301.2:c.2113+4T>C	ENSP00000501333.2:n.2113+4T>C
ENST00000684448.1:n.787+4T>C
ENST00000316623.10:c.2113+4T>C MANE Select	ENSP00000325527.5:n.2113+4T>C
ENST00000316623.9:c.2113+4T>C	ENSP00000325527.5:n.2113+4T>C
ENST00000537463.6:c.637-29133T>C	ENSP00000440294.2:n.637-29133T>C
NM_000138.4:c.2113+4T>C , LRG_778t1:c.2113+4T>C	NP_000129.3:n.2113+4T>C
NM_000138.5:c.2113+4T>C MANE Select	NP_000129.3:n.2113+4T>C