Canonical Allele Identifier: CA713380231

Gene: FBN1

Linked Data

• dbSNP Id: rs1304361724
• gnomAD v3: 15-48412493-C-G
• gnomAD v4: 15-48412493-C-G
• MyVariant Identifiers: chr15:g.48704690C>G (hg19) ; chr15:g.48412493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412493C>G , CM000677.2:g.48412493C>G	GRCh38
NC_000015.9:g.48704690C>G , CM000677.1:g.48704690C>G	GRCh37
NC_000015.8:g.46491982C>G	NCBI36
NG_008805.2:g.238296G>C , LRG_778:g.238296G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1034+76G>C	ENSP00000453958.2:n.*1034+76G>C
ENST00000674301.2:c.*1739+76G>C	ENSP00000501333.2:n.*1739+76G>C
ENST00000682158.1:n.1607+76G>C
ENST00000682170.1:n.2407+76G>C
ENST00000682767.1:n.1523+76G>C
ENST00000316623.10:c.8226+76G>C MANE Select	ENSP00000325527.5:n.8226+76G>C
ENST00000674301.1:c.3392+76G>C	ENSP00000501333.1:n.3392+76G>C
ENST00000316623.9:c.8226+76G>C	ENSP00000325527.5:n.8226+76G>C
ENST00000559133.5:c.3595+76G>C
ENST00000561429.1:n.481+76G>C
NM_000138.4:c.8226+76G>C , LRG_778t1:c.8226+76G>C	NP_000129.3:n.8226+76G>C
NM_000138.5:c.8226+76G>C MANE Select	NP_000129.3:n.8226+76G>C