Canonical Allele Identifier: CA392347447

Gene: FBN1

Linked Data

• dbSNP Id: rs1374436710
• gnomAD v2: 15-48812918-G-C
• gnomAD v4: 15-48520721-G-C
• MyVariant Identifiers: chr15:g.48812918G>C (hg19) ; chr15:g.48520721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520721G>C , CM000677.2:g.48520721G>C	GRCh38
NC_000015.9:g.48812918G>C , CM000677.1:g.48812918G>C	GRCh37
NC_000015.8:g.46600210G>C	NCBI36
NG_008805.2:g.130068C>G , LRG_778:g.130068C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1085C>G	ENSP00000453958.2:p.Ala362Gly
ENST00000674301.2:c.1085C>G	ENSP00000501333.2:p.Ala362Gly
ENST00000316623.10:c.1085C>G MANE Select	ENSP00000325527.5:p.Ala362Gly
ENST00000316623.9:c.1085C>G	ENSP00000325527.5:p.Ala362Gly
ENST00000537463.6:c.636+16990C>G	ENSP00000440294.2:n.636+16990C>G
NM_000138.4:c.1085C>G , LRG_778t1:c.1085C>G	NP_000129.3:p.Ala362Gly
NM_000138.5:c.1085C>G MANE Select	NP_000129.3:p.Ala362Gly