Canonical Allele Identifier: CA058835

Gene: FBN1

Linked Data

• dbSNP Id: rs201354003
• ExAC: 15:48714110 C / T
• gnomAD v3: 15-48421913-C-T
• gnomAD v4: 15-48421913-C-T
• MyVariant Identifiers: chr15:g.48714110C>T (hg19) ; chr15:g.48421913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421913C>T , CM000677.2:g.48421913C>T	GRCh38
NC_000015.9:g.48714110C>T , CM000677.1:g.48714110C>T	GRCh37
NC_000015.8:g.46501402C>T	NCBI36
NG_008805.2:g.228876G>A , LRG_778:g.228876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+39G>A	ENSP00000453958.2:n.*378+39G>A
ENST00000674301.2:c.*1083+39G>A	ENSP00000501333.2:n.*1083+39G>A
ENST00000682170.1:n.1751+39G>A
ENST00000682767.1:n.867+39G>A
ENST00000316623.10:c.7570+39G>A MANE Select	ENSP00000325527.5:n.7570+39G>A
ENST00000674301.1:c.2736+39G>A	ENSP00000501333.1:n.2736+39G>A
ENST00000316623.9:c.7570+39G>A	ENSP00000325527.5:n.7570+39G>A
ENST00000559133.5:c.2939+39G>A
NM_000138.4:c.7570+39G>A , LRG_778t1:c.7570+39G>A	NP_000129.3:n.7570+39G>A
NM_000138.5:c.7570+39G>A MANE Select	NP_000129.3:n.7570+39G>A