Canonical Allele Identifier: CA392336880

Gene: FBN1

Linked Data

• ClinVar Variation Id: 449672
• ClinVar RCV Id: RCV000519359 ; RCV000663861
• dbSNP Id: rs1555395257
• MyVariant Identifiers: chr15:g.48729963A>G (hg19) ; chr15:g.48437766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437766A>G , CM000677.2:g.48437766A>G	GRCh38
NC_000015.9:g.48729963A>G , CM000677.1:g.48729963A>G	GRCh37
NC_000015.8:g.46517255A>G	NCBI36
NG_008805.2:g.213023T>C , LRG_778:g.213023T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6313+2T>C	ENSP00000453958.2:n.6313+2T>C
ENST00000674301.2:c.6313+2T>C	ENSP00000501333.2:n.6313+2T>C
ENST00000316623.10:c.6313+2T>C MANE Select	ENSP00000325527.5:n.6313+2T>C
ENST00000674301.1:c.1312+2T>C	ENSP00000501333.1:n.1312+2T>C
ENST00000316623.9:c.6313+2T>C	ENSP00000325527.5:n.6313+2T>C
ENST00000537463.6:c.*2076+2T>C	ENSP00000440294.2:n.*2076+2T>C
ENST00000559133.5:c.1620+2T>C
ENST00000560820.1:n.435T>C
NM_000138.4:c.6313+2T>C , LRG_778t1:c.6313+2T>C	NP_000129.3:n.6313+2T>C
NM_000138.5:c.6313+2T>C MANE Select	NP_000129.3:n.6313+2T>C