Canonical Allele Identifier: CA16614507

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406360
• ClinVar RCV Id: RCV000476981
• dbSNP Id: rs1060501087
• MyVariant Identifiers: chr15:g.48738971T>C (hg19) ; chr15:g.48446774T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446774T>C , CM000677.2:g.48446774T>C	GRCh38
NC_000015.9:g.48738971T>C , CM000677.1:g.48738971T>C	GRCh37
NC_000015.8:g.46526263T>C	NCBI36
NG_008805.2:g.204015A>G , LRG_778:g.204015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5720A>G	ENSP00000453958.2:p.Asn1907Ser
ENST00000674301.2:c.5720A>G	ENSP00000501333.2:p.Asn1907Ser
ENST00000684448.1:n.4394A>G
ENST00000316623.10:c.5720A>G MANE Select	ENSP00000325527.5:p.Asn1907Ser
ENST00000674301.1:c.719A>G	ENSP00000501333.1:p.Asn240Ser
ENST00000316623.9:c.5720A>G	ENSP00000325527.5:p.Asn1907Ser
ENST00000537463.6:c.*1483A>G	ENSP00000440294.2:n.*1483A>G
ENST00000559133.5:c.1027A>G
NM_000138.4:c.5720A>G , LRG_778t1:c.5720A>G	NP_000129.3:p.Asn1907Ser
NM_000138.5:c.5720A>G MANE Select	NP_000129.3:p.Asn1907Ser