Canonical Allele Identifier: CA269519975

Gene: FBN1

Linked Data

• dbSNP Id: rs925738819
• gnomAD v3: 15-48422372-C-G
• gnomAD v4: 15-48422372-C-G
• MyVariant Identifiers: chr15:g.48422372C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422372C>G , CM000677.2:g.48422372C>G	GRCh38
NC_000015.9:g.48714569C>G , CM000677.1:g.48714569C>G	GRCh37
NC_000015.8:g.46501861C>G	NCBI36
NG_008805.2:g.228417G>C , LRG_778:g.228417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-304G>C	ENSP00000453958.2:n.*262-304G>C
ENST00000674301.2:c.*967-304G>C	ENSP00000501333.2:n.*967-304G>C
ENST00000682170.1:n.1635-304G>C
ENST00000682767.1:n.751-304G>C
ENST00000316623.10:c.7454-304G>C MANE Select	ENSP00000325527.5:n.7454-304G>C
ENST00000674301.1:c.2620-304G>C	ENSP00000501333.1:n.2620-304G>C
ENST00000316623.9:c.7454-304G>C	ENSP00000325527.5:n.7454-304G>C
ENST00000559133.5:c.2823-304G>C
NM_000138.4:c.7454-304G>C , LRG_778t1:c.7454-304G>C	NP_000129.3:n.7454-304G>C
NM_000138.5:c.7454-304G>C MANE Select	NP_000129.3:n.7454-304G>C