Canonical Allele Identifier: CA392336898

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1331925
• ClinVar RCV Id: RCV001804441
• dbSNP Id: rs2141241414
• MyVariant Identifiers: chr15:g.48729971G>C (hg19) ; chr15:g.48437774G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437774G>C , CM000677.2:g.48437774G>C	GRCh38
NC_000015.9:g.48729971G>C , CM000677.1:g.48729971G>C	GRCh37
NC_000015.8:g.46517263G>C	NCBI36
NG_008805.2:g.213015C>G , LRG_778:g.213015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6307C>G	ENSP00000453958.2:p.Pro2103Ala
ENST00000674301.2:c.6307C>G	ENSP00000501333.2:p.Pro2103Ala
ENST00000316623.10:c.6307C>G MANE Select	ENSP00000325527.5:p.Pro2103Ala
ENST00000674301.1:c.1306C>G	ENSP00000501333.1:p.Pro436Ala
ENST00000316623.9:c.6307C>G	ENSP00000325527.5:p.Pro2103Ala
ENST00000537463.6:c.*2070C>G	ENSP00000440294.2:n.*2070C>G
ENST00000559133.5:c.1614C>G
ENST00000560820.1:n.427C>G
NM_000138.4:c.6307C>G , LRG_778t1:c.6307C>G	NP_000129.3:p.Pro2103Ala
NM_000138.5:c.6307C>G MANE Select	NP_000129.3:p.Pro2103Ala