Canonical Allele Identifier: CA017104

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36112
• ClinVar RCV Id: RCV000029774
• dbSNP Id: rs193922230
• MyVariant Identifiers: chr15:g.48718037T>G (hg19) ; chr15:g.48425840T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425840T>G , CM000677.2:g.48425840T>G	GRCh38
NC_000015.9:g.48718037T>G , CM000677.1:g.48718037T>G	GRCh37
NC_000015.8:g.46505329T>G	NCBI36
NG_008805.2:g.224949A>C , LRG_778:g.224949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*37A>C	ENSP00000453958.2:n.*37A>C
ENST00000674301.2:c.*742A>C	ENSP00000501333.2:n.*742A>C
ENST00000682170.1:n.1410A>C
ENST00000682767.1:n.526A>C
ENST00000316623.10:c.7229A>C MANE Select	ENSP00000325527.5:p.His2410Pro
ENST00000674301.1:c.2395A>C	ENSP00000501333.1:n.2395A>C
ENST00000316623.9:c.7229A>C	ENSP00000325527.5:p.His2410Pro
ENST00000559133.5:c.2598A>C
NM_000138.4:c.7229A>C , LRG_778t1:c.7229A>C	NP_000129.3:p.His2410Pro
NM_000138.5:c.7229A>C MANE Select	NP_000129.3:p.His2410Pro