Canonical Allele Identifier: CA013641

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42324
• ClinVar RCV Id: RCV000035159 ; RCV000627218 ; RCV000610725 ; RCV001852707
• dbSNP Id: rs397515784
• MyVariant Identifiers: chr15:g.48782118G>C (hg19) ; chr15:g.48489921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489921G>C , CM000677.2:g.48489921G>C	GRCh38
NC_000015.9:g.48782118G>C , CM000677.1:g.48782118G>C	GRCh37
NC_000015.8:g.46569410G>C	NCBI36
NG_008805.2:g.160868C>G , LRG_778:g.160868C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3012C>G	ENSP00000453958.2:p.Tyr1004Ter
ENST00000674301.2:c.3012C>G	ENSP00000501333.2:p.Tyr1004Ter
ENST00000684448.1:n.1686C>G
ENST00000316623.10:c.3012C>G MANE Select	ENSP00000325527.5:p.Tyr1004Ter
ENST00000316623.9:c.3012C>G	ENSP00000325527.5:p.Tyr1004Ter
ENST00000537463.6:c.637-15271C>G	ENSP00000440294.2:n.637-15271C>G
NM_000138.4:c.3012C>G , LRG_778t1:c.3012C>G	NP_000129.3:p.Tyr1004Ter
NM_000138.5:c.3012C>G MANE Select	NP_000129.3:p.Tyr1004Ter