Canonical Allele Identifier: CA16607087

Gene: FBN1

Linked Data

• ClinVar Variation Id: 379489
• ClinVar RCV Id: RCV000443127 ; RCV000663899 ; RCV003766212
• dbSNP Id: rs1057520617
• MyVariant Identifiers: chr15:g.48722967A>G (hg19) ; chr15:g.48430770A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430770A>G , CM000677.2:g.48430770A>G	GRCh38
NC_000015.9:g.48722967A>G , CM000677.1:g.48722967A>G	GRCh37
NC_000015.8:g.46510259A>G	NCBI36
NG_008805.2:g.220019T>C , LRG_778:g.220019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6772T>C	ENSP00000453958.2:p.Cys2258Arg
ENST00000674301.2:c.*223T>C	ENSP00000501333.2:n.*223T>C
ENST00000682170.1:n.381T>C
ENST00000316623.10:c.6772T>C MANE Select	ENSP00000325527.5:p.Cys2258Arg
ENST00000674301.1:c.1876T>C	ENSP00000501333.1:n.1876T>C
ENST00000316623.9:c.6772T>C	ENSP00000325527.5:p.Cys2258Arg
ENST00000537463.6:c.*2535T>C	ENSP00000440294.2:n.*2535T>C
ENST00000559133.5:c.2079T>C
ENST00000560720.1:n.59T>C
NM_000138.4:c.6772T>C , LRG_778t1:c.6772T>C	NP_000129.3:p.Cys2258Arg
NM_000138.5:c.6772T>C MANE Select	NP_000129.3:p.Cys2258Arg