Canonical Allele Identifier: CA049150
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919063
ClinVar RCV Id: RCV001176989 RCV001234573
dbSNP Id: rs142964120
ExAC: 15:48782247 C / A
gnomAD v2: 15-48782247-C-A
gnomAD v4: 15-48490050-C-A
MyVariant Identifiers: chr15:g.48782247C>A (hg19) chr15:g.48490050C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490050C>A , CM000677.2:g.48490050C>A GRCh38
NC_000015.9:g.48782247C>A , CM000677.1:g.48782247C>A GRCh37
NC_000015.8:g.46569539C>A NCBI36
NG_008805.2:g.160739G>T , LRG_778:g.160739G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2883G>T ENSP00000453958.2:p.Arg961Ser
ENST00000674301.2:c.2883G>T ENSP00000501333.2:p.Arg961Ser
ENST00000684448.1:n.1557G>T
ENST00000316623.10:c.2883G>T MANE Select ENSP00000325527.5:p.Arg961Ser
ENST00000316623.9:c.2883G>T ENSP00000325527.5:p.Arg961Ser
ENST00000537463.6:c.637-15400G>T ENSP00000440294.2:n.637-15400G>T
NM_000138.4:c.2883G>T , LRG_778t1:c.2883G>T NP_000129.3:p.Arg961Ser
NM_000138.5:c.2883G>T MANE Select NP_000129.3:p.Arg961Ser
Search 100 bp 5'
Search 100 bp 3'