Canonical Allele Identifier: CA969547114

Gene: FBN1

Linked Data

• dbSNP Id: rs2043076912
• gnomAD v3: 15-48436937-T-C
• gnomAD v4: 15-48436937-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48436937T>C , CM000677.2:g.48436937T>C	GRCh38
NC_000015.9:g.48729134T>C , CM000677.1:g.48729134T>C	GRCh37
NC_000015.8:g.46516426T>C	NCBI36
NG_008805.2:g.213852A>G , LRG_778:g.213852A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6496+24A>G	ENSP00000453958.2:n.6496+24A>G
ENST00000674301.2:c.6496+24A>G	ENSP00000501333.2:n.6496+24A>G
ENST00000682170.1:n.105+24A>G
ENST00000316623.10:c.6496+24A>G MANE Select	ENSP00000325527.5:n.6496+24A>G
ENST00000674301.1:c.1495+24A>G	ENSP00000501333.1:n.1495+24A>G
ENST00000316623.9:c.6496+24A>G	ENSP00000325527.5:n.6496+24A>G
ENST00000537463.6:c.*2259+24A>G	ENSP00000440294.2:n.*2259+24A>G
ENST00000559133.5:c.1803+24A>G
NM_000138.4:c.6496+24A>G , LRG_778t1:c.6496+24A>G	NP_000129.3:n.6496+24A>G
NM_000138.5:c.6496+24A>G MANE Select	NP_000129.3:n.6496+24A>G