Canonical Allele Identifier: CA392330471

Gene: FBN1

Linked Data

• dbSNP Id: rs1216969896
• gnomAD v2: 15-48784679-C-A
• gnomAD v4: 15-48492482-C-A
• MyVariant Identifiers: chr15:g.48784679C>A (hg19) ; chr15:g.48492482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492482C>A , CM000677.2:g.48492482C>A	GRCh38
NC_000015.9:g.48784679C>A , CM000677.1:g.48784679C>A	GRCh37
NC_000015.8:g.46571971C>A	NCBI36
NG_008805.2:g.158307G>T , LRG_778:g.158307G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2833G>T	ENSP00000453958.2:p.Ala945Ser
ENST00000674301.2:c.2833G>T	ENSP00000501333.2:p.Ala945Ser
ENST00000684448.1:n.1507G>T
ENST00000316623.10:c.2833G>T MANE Select	ENSP00000325527.5:p.Ala945Ser
ENST00000316623.9:c.2833G>T	ENSP00000325527.5:p.Ala945Ser
ENST00000537463.6:c.637-17832G>T	ENSP00000440294.2:n.637-17832G>T
NM_000138.4:c.2833G>T , LRG_778t1:c.2833G>T	NP_000129.3:p.Ala945Ser
NM_000138.5:c.2833G>T MANE Select	NP_000129.3:p.Ala945Ser