Canonical Allele Identifier: CA617835512

Gene: FBN1

Linked Data

• dbSNP Id: rs1465395697
• gnomAD v2: 15-48729126-A-G
• gnomAD v4: 15-48436929-A-G
• MyVariant Identifiers: chr15:g.48729126A>G (hg19) ; chr15:g.48436929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48436929A>G , CM000677.2:g.48436929A>G	GRCh38
NC_000015.9:g.48729126A>G , CM000677.1:g.48729126A>G	GRCh37
NC_000015.8:g.46516418A>G	NCBI36
NG_008805.2:g.213860T>C , LRG_778:g.213860T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6496+32T>C	ENSP00000453958.2:n.6496+32T>C
ENST00000674301.2:c.6496+32T>C	ENSP00000501333.2:n.6496+32T>C
ENST00000682170.1:n.105+32T>C
ENST00000316623.10:c.6496+32T>C MANE Select	ENSP00000325527.5:n.6496+32T>C
ENST00000674301.1:c.1495+32T>C	ENSP00000501333.1:n.1495+32T>C
ENST00000316623.9:c.6496+32T>C	ENSP00000325527.5:n.6496+32T>C
ENST00000537463.6:c.*2259+32T>C	ENSP00000440294.2:n.*2259+32T>C
ENST00000559133.5:c.1803+32T>C
NM_000138.4:c.6496+32T>C , LRG_778t1:c.6496+32T>C	NP_000129.3:n.6496+32T>C
NM_000138.5:c.6496+32T>C MANE Select	NP_000129.3:n.6496+32T>C