Canonical Allele Identifier: CA056320

Gene: FBN1

Linked Data

• dbSNP Id: rs778660319
• ExAC: 15:48733870 C / G
• gnomAD v2: 15-48733870-C-G
• gnomAD v4: 15-48441673-C-G
• MyVariant Identifiers: chr15:g.48733870C>G (hg19) ; chr15:g.48441673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441673C>G , CM000677.2:g.48441673C>G	GRCh38
NC_000015.9:g.48733870C>G , CM000677.1:g.48733870C>G	GRCh37
NC_000015.8:g.46521162C>G	NCBI36
NG_008805.2:g.209116G>C , LRG_778:g.209116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6163+48G>C	ENSP00000453958.2:n.6163+48G>C
ENST00000674301.2:c.6163+48G>C	ENSP00000501333.2:n.6163+48G>C
ENST00000316623.10:c.6163+48G>C MANE Select	ENSP00000325527.5:n.6163+48G>C
ENST00000674301.1:c.1162+48G>C	ENSP00000501333.1:n.1162+48G>C
ENST00000316623.9:c.6163+48G>C	ENSP00000325527.5:n.6163+48G>C
ENST00000537463.6:c.*1926+48G>C	ENSP00000440294.2:n.*1926+48G>C
ENST00000559133.5:c.1470+48G>C
ENST00000560820.1:n.283+48G>C
NM_000138.4:c.6163+48G>C , LRG_778t1:c.6163+48G>C	NP_000129.3:n.6163+48G>C
NM_000138.5:c.6163+48G>C MANE Select	NP_000129.3:n.6163+48G>C