Canonical Allele Identifier: CA014954

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200042
• ClinVar RCV Id: RCV000181518 ; RCV002245985 ; RCV001852281
• dbSNP Id: rs794728221
• MyVariant Identifiers: chr15:g.48764748C>T (hg19) ; chr15:g.48472551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472551C>T , CM000677.2:g.48472551C>T	GRCh38
NC_000015.9:g.48764748C>T , CM000677.1:g.48764748C>T	GRCh37
NC_000015.8:g.46552040C>T	NCBI36
NG_008805.2:g.178238G>A , LRG_778:g.178238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336G>A	ENSP00000453958.2:p.Asp1446Asn
ENST00000674301.2:c.4336G>A	ENSP00000501333.2:p.Asp1446Asn
ENST00000683268.1:n.303G>A
ENST00000684448.1:n.3010G>A
ENST00000316623.10:c.4336G>A MANE Select	ENSP00000325527.5:p.Asp1446Asn
ENST00000316623.9:c.4336G>A	ENSP00000325527.5:p.Asp1446Asn
ENST00000537463.6:c.*99G>A	ENSP00000440294.2:n.*99G>A
NM_000138.4:c.4336G>A , LRG_778t1:c.4336G>A	NP_000129.3:p.Asp1446Asn
NM_000138.5:c.4336G>A MANE Select	NP_000129.3:p.Asp1446Asn