Canonical Allele Identifier: CA3314179
Gene: AGGF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402345
ClinVar RCV Id: RCV000455025 RCV001672749
dbSNP Id: rs34203073
ExAC: 5:76331449 G / A
gnomAD v2: 5-76331449-G-A
gnomAD v3: 5-77035624-G-A
gnomAD v4: 5-77035624-G-A
MyVariant Identifiers: chr5:g.76331449G>A (hg19) chr5:g.77035624G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.77035624G>A , CM000667.2:g.77035624G>A GRCh38
NC_000005.9:g.76331449G>A , CM000667.1:g.76331449G>A GRCh37
NC_000005.8:g.76367205G>A NCBI36
NG_027822.1:g.10240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312916.12:c.397G>A MANE Select ENSP00000316109.7:p.Glu133Lys
ENST00000646704.1:c.262G>A ENSP00000495089.1:p.Glu88Lys
ENST00000312916.11:c.397G>A ENSP00000316109.7:p.Glu133Lys
ENST00000502408.1:c.385G>A
ENST00000503538.5:n.414G>A
ENST00000506806.1:c.397G>A ENSP00000424733.1:p.Glu133Lys
NM_018046.4:c.397G>A NP_060516.2:p.Glu133Lys
NM_018046.5:c.397G>A MANE Select NP_060516.2:p.Glu133Lys
Search 100 bp 5'
Search 100 bp 3'