Canonical Allele Identifier: CA050407

Gene: FBN1

Linked Data

• dbSNP Id: rs765742028
• ExAC: 15:48779652 C / T
• gnomAD v2: 15-48779652-C-T
• gnomAD v4: 15-48487455-C-T
• MyVariant Identifiers: chr15:g.48779652C>T (hg19) ; chr15:g.48487455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487455C>T , CM000677.2:g.48487455C>T	GRCh38
NC_000015.9:g.48779652C>T , CM000677.1:g.48779652C>T	GRCh37
NC_000015.8:g.46566944C>T	NCBI36
NG_008805.2:g.163334G>A , LRG_778:g.163334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-18G>A	ENSP00000453958.2:n.3338-18G>A
ENST00000674301.2:c.3338-18G>A	ENSP00000501333.2:n.3338-18G>A
ENST00000684448.1:n.2012-18G>A
ENST00000316623.10:c.3338-18G>A MANE Select	ENSP00000325527.5:n.3338-18G>A
ENST00000316623.9:c.3338-18G>A	ENSP00000325527.5:n.3338-18G>A
ENST00000537463.6:c.637-12805G>A	ENSP00000440294.2:n.637-12805G>A
NM_000138.4:c.3338-18G>A , LRG_778t1:c.3338-18G>A	NP_000129.3:n.3338-18G>A
NM_000138.5:c.3338-18G>A MANE Select	NP_000129.3:n.3338-18G>A