Canonical Allele Identifier: CA617836936

Gene: FBN1

Linked Data

• dbSNP Id: rs1360588248
• gnomAD v2: 15-48736702-A-C
• gnomAD v4: 15-48444505-A-C
• MyVariant Identifiers: chr15:g.48736702A>C (hg19) ; chr15:g.48444505A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444505A>C , CM000677.2:g.48444505A>C	GRCh38
NC_000015.9:g.48736702A>C , CM000677.1:g.48736702A>C	GRCh37
NC_000015.8:g.46523994A>C	NCBI36
NG_008805.2:g.206284T>G , LRG_778:g.206284T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+36T>G	ENSP00000453958.2:n.6037+36T>G
ENST00000674301.2:c.6037+36T>G	ENSP00000501333.2:n.6037+36T>G
ENST00000684448.1:n.4747T>G
ENST00000316623.10:c.6037+36T>G MANE Select	ENSP00000325527.5:n.6037+36T>G
ENST00000674301.1:c.1036+36T>G	ENSP00000501333.1:n.1036+36T>G
ENST00000316623.9:c.6037+36T>G	ENSP00000325527.5:n.6037+36T>G
ENST00000537463.6:c.*1800+36T>G	ENSP00000440294.2:n.*1800+36T>G
ENST00000559133.5:c.1344+36T>G
ENST00000560820.1:n.157+36T>G
NM_000138.4:c.6037+36T>G , LRG_778t1:c.6037+36T>G	NP_000129.3:n.6037+36T>G
NM_000138.5:c.6037+36T>G MANE Select	NP_000129.3:n.6037+36T>G