Canonical Allele Identifier: CA050634

Gene: FBN1

Linked Data

• ClinVar Variation Id: 255292
• ClinVar RCV Id: RCV000243495 ; RCV001044344 ; RCV001184767 ; RCV001658158 ; RCV003224240 ; RCV003998948
• dbSNP Id: rs140890215
• ExAC: 15:48779518 C / T
• gnomAD v2: 15-48779518-C-T
• gnomAD v3: 15-48487321-C-T
• gnomAD v4: 15-48487321-C-T
• MyVariant Identifiers: chr15:g.48779518C>T (hg19) ; chr15:g.48487321C>T (hg38)
• PubMed: PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487321C>T , CM000677.2:g.48487321C>T	GRCh38
NC_000015.9:g.48779518C>T , CM000677.1:g.48779518C>T	GRCh37
NC_000015.8:g.46566810C>T	NCBI36
NG_008805.2:g.163468G>A , LRG_778:g.163468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3454G>A	ENSP00000453958.2:p.Ala1152Thr
ENST00000674301.2:c.3454G>A	ENSP00000501333.2:p.Ala1152Thr
ENST00000684448.1:n.2128G>A
ENST00000316623.10:c.3454G>A MANE Select	ENSP00000325527.5:p.Ala1152Thr
ENST00000316623.9:c.3454G>A	ENSP00000325527.5:p.Ala1152Thr
ENST00000537463.6:c.637-12671G>A	ENSP00000440294.2:n.637-12671G>A
NM_000138.4:c.3454G>A , LRG_778t1:c.3454G>A	NP_000129.3:p.Ala1152Thr
NM_000138.5:c.3454G>A MANE Select	NP_000129.3:p.Ala1152Thr