Canonical Allele Identifier: CA618011942

Gene: FBN1

Linked Data

• dbSNP Id: rs1265475557
• gnomAD v2: 15-48829733-T-A
• gnomAD v3: 15-48537536-T-A
• gnomAD v4: 15-48537536-T-A
• MyVariant Identifiers: chr15:g.48829733T>A (hg19) ; chr15:g.48537536T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537536T>A , CM000677.2:g.48537536T>A	GRCh38
NC_000015.9:g.48829733T>A , CM000677.1:g.48829733T>A	GRCh37
NC_000015.8:g.46617025T>A	NCBI36
NG_008805.2:g.113253A>T , LRG_778:g.113253A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.736+75A>T	ENSP00000453958.2:n.736+75A>T
ENST00000674301.2:c.736+75A>T	ENSP00000501333.2:n.736+75A>T
ENST00000316623.10:c.736+75A>T MANE Select	ENSP00000325527.5:n.736+75A>T
ENST00000316623.9:c.736+75A>T	ENSP00000325527.5:n.736+75A>T
ENST00000537463.6:c.636+175A>T	ENSP00000440294.2:n.636+175A>T
NM_000138.4:c.736+75A>T , LRG_778t1:c.736+75A>T	NP_000129.3:n.736+75A>T
NM_000138.5:c.736+75A>T MANE Select	NP_000129.3:n.736+75A>T