Canonical Allele Identifier: CA269537252

Gene: FBN1

Linked Data

• dbSNP Id: rs1047692914
• gnomAD v4: 15-48494138-G-A
• MyVariant Identifiers: chr15:g.48494138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494138G>A , CM000677.2:g.48494138G>A	GRCh38
NC_000015.9:g.48786335G>A , CM000677.1:g.48786335G>A	GRCh37
NC_000015.8:g.46573627G>A	NCBI36
NG_008805.2:g.156651C>T , LRG_778:g.156651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2728+66C>T	ENSP00000453958.2:n.2728+66C>T
ENST00000674301.2:c.2728+66C>T	ENSP00000501333.2:n.2728+66C>T
ENST00000684448.1:n.1402+66C>T
ENST00000316623.10:c.2728+66C>T MANE Select	ENSP00000325527.5:n.2728+66C>T
ENST00000316623.9:c.2728+66C>T	ENSP00000325527.5:n.2728+66C>T
ENST00000537463.6:c.637-19488C>T	ENSP00000440294.2:n.637-19488C>T
NM_000138.4:c.2728+66C>T , LRG_778t1:c.2728+66C>T	NP_000129.3:n.2728+66C>T
NM_000138.5:c.2728+66C>T MANE Select	NP_000129.3:n.2728+66C>T