Canonical Allele Identifier: CA9153295
Gene: FBN3 HGNC NCBI
ELAVL1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.8136091G>A
GRCh37 chr19:g.8200975G>A
gnomAD v2:
19:8200975 G / A
gnomAD v3:
19:8136091 G / A
gnomAD v4:
chr19-8136091-G-A
Joint Max Group AF 0.00252608 (AFR)
Genomes Max Group AF 0.00215743 (AFR)
Exomes Max Group AF 0.00270569 (AFR)
ClinVar Allele:
1623709
ClinVar RCV:
RCV002134688
RCV003951133
ClinVar Variation:
1604554
dbSNP:
201975904
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8136091G>A , CM000681.2:g.8136091G>A GRCh38
NC_000019.9:g.8200975G>A , CM000681.1:g.8200975G>A GRCh37
NC_000019.8:g.8106975G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000600128.6:c.1466-5C>T (FBN3) MANE Select ENSP00000470498.1:n.1466-5C>T
ENST00000651877.1:c.1592-5C>T (FBN3) ENSP00000498507.1:n.1592-5C>T
ENST00000270509.6:c.1466-5C>T (FBN3) ENSP00000270509.2:n.1466-5C>T
ENST00000351593.9:c.-20+13213C>T (ELAVL1) ENSP00000264073.6:n.-20+13213C>T
ENST00000600128.5:c.1466-5C>T (FBN3) ENSP00000470498.1:n.1466-5C>T
ENST00000601739.5:c.1466-5C>T (FBN3) ENSP00000472324.1:n.1466-5C>T
NM_032447.3:c.1466-5C>T (FBN3) NP_115823.3:n.1466-5C>T
XM_011528373.1:c.1466-5C>T (FBN3) XP_011526675.1:n.1466-5C>T
NM_001321431.1:c.1466-5C>T (FBN3) NP_001308360.1:n.1466-5C>T
NM_032447.4:c.1466-5C>T (FBN3) NP_115823.3:n.1466-5C>T
XM_017027372.1:c.1466-5C>T (FBN3) XP_016882861.1:n.1466-5C>T
XM_017027373.1:c.1466-5C>T (FBN3) XP_016882862.1:n.1466-5C>T
XM_017027374.2:c.1370-5C>T (FBN3) XP_016882863.1:n.1370-5C>T
XM_017027375.2:c.1466-5C>T (FBN3) XP_016882864.1:n.1466-5C>T
XM_017027376.1:c.1466-5C>T (FBN3) XP_016882865.1:n.1466-5C>T
XM_017027379.1:c.1592-5C>T (FBN3) XP_016882868.1:n.1592-5C>T
NM_032447.5:c.1466-5C>T (FBN3) MANE Select NP_115823.3:n.1466-5C>T
NM_001321431.2:c.1466-5C>T (FBN3) NP_001308360.1:n.1466-5C>T
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