Canonical Allele Identifier: CA392333176

Gene: FBN1

Linked Data

• dbSNP Id: rs1204178823
• gnomAD v3: 15-48432869-T-C
• gnomAD v4: 15-48432869-T-C
• MyVariant Identifiers: chr15:g.48725066T>C (hg19) ; chr15:g.48432869T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432869T>C , CM000677.2:g.48432869T>C	GRCh38
NC_000015.9:g.48725066T>C , CM000677.1:g.48725066T>C	GRCh37
NC_000015.8:g.46512358T>C	NCBI36
NG_008805.2:g.217920A>G , LRG_778:g.217920A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6736A>G	ENSP00000453958.2:p.Lys2246Glu
ENST00000674301.2:c.*187A>G	ENSP00000501333.2:n.*187A>G
ENST00000682170.1:n.345A>G
ENST00000316623.10:c.6736A>G MANE Select	ENSP00000325527.5:p.Lys2246Glu
ENST00000674301.1:c.1840A>G	ENSP00000501333.1:n.1840A>G
ENST00000316623.9:c.6736A>G	ENSP00000325527.5:p.Lys2246Glu
ENST00000537463.6:c.*2499A>G	ENSP00000440294.2:n.*2499A>G
ENST00000559133.5:c.2043A>G
ENST00000560720.1:n.23A>G
NM_000138.4:c.6736A>G , LRG_778t1:c.6736A>G	NP_000129.3:p.Lys2246Glu
NM_000138.5:c.6736A>G MANE Select	NP_000129.3:p.Lys2246Glu