Canonical Allele Identifier: CA617832958

Gene: FBN1

Linked Data

• dbSNP Id: rs1370666988
• gnomAD v2: 15-48713744-T-G
• gnomAD v4: 15-48421547-T-G
• MyVariant Identifiers: chr15:g.48713744T>G (hg19) ; chr15:g.48421547T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421547T>G , CM000677.2:g.48421547T>G	GRCh38
NC_000015.9:g.48713744T>G , CM000677.1:g.48713744T>G	GRCh37
NC_000015.8:g.46501036T>G	NCBI36
NG_008805.2:g.229242A>C , LRG_778:g.229242A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+11A>C	ENSP00000453958.2:n.*507+11A>C
ENST00000674301.2:c.*1212+11A>C	ENSP00000501333.2:n.*1212+11A>C
ENST00000682170.1:n.1880+11A>C
ENST00000682767.1:n.996+11A>C
ENST00000316623.10:c.7699+11A>C MANE Select	ENSP00000325527.5:n.7699+11A>C
ENST00000674301.1:c.2865+11A>C	ENSP00000501333.1:n.2865+11A>C
ENST00000316623.9:c.7699+11A>C	ENSP00000325527.5:n.7699+11A>C
ENST00000559133.5:c.3068+11A>C
NM_000138.4:c.7699+11A>C , LRG_778t1:c.7699+11A>C	NP_000129.3:n.7699+11A>C
NM_000138.5:c.7699+11A>C MANE Select	NP_000129.3:n.7699+11A>C