Canonical Allele Identifier: CA210958
Gene: ART4 HGNC NCBI
C12orf60 HGNC NCBI
COSMIC:
COSM147449 (not active)
MyVariant.info:
GRCh38 chr12:g.14840505C>T
GRCh37 chr12:g.14993439C>T
Revel Score:
ENST00000228936 (MANE Select) 0.046
ENST00000420600 0.046
gnomAD v2:
12:14993439 C / T
gnomAD v3:
12:14840505 C / T
gnomAD v4:
chr12-14840505-C-T
Joint Max Group AF 0.42557866 (MID)
Genomes Max Group AF 0.38252027 (NFE)
Exomes Max Group AF 0.42734025 (MID)
ClinVar RCV:
RCV000019304
RCV003974843
ClinVar Variation:
17730
dbSNP:
11276
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14840505C>T , CM000674.2:g.14840505C>T GRCh38
NC_000012.11:g.14993439C>T , CM000674.1:g.14993439C>T GRCh37
NC_000012.10:g.14884706C>T NCBI36
NG_007477.2:g.7975G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228936.6:c.793G>A (ART4) MANE Select ENSP00000228936.4:p.Asp265Asn
ENST00000648334.1:n.125+10826C>T (C12orf60)
ENST00000228936.4:c.793G>A (ART4) ENSP00000228936.4:p.Asp265Asn
ENST00000420600.1:c.742G>A (ART4) ENSP00000405689.1:p.Asp248Asn
ENST00000430129.6:c.165+577G>A (ART4) ENSP00000412735.2:n.165+577G>A
ENST00000527783.1:n.75+36754C>T (C12orf60)
ENST00000533472.1:n.86+36754C>T (C12orf60)
ENST00000544616.5:c.93+2465G>A (ART4) ENSP00000442877.1:n.93+2465G>A
NM_021071.2:c.793G>A (ART4) NP_066549.2:p.Asp265Asn
NM_001354646.1:c.793G>A (ART4) NP_001341575.1:p.Asp265Asn
NM_021071.3:c.793G>A (ART4) NP_066549.2:p.Asp265Asn
NM_021071.4:c.793G>A (ART4) MANE Select NP_066549.2:p.Asp265Asn
NM_001354646.2:c.793G>A (ART4) NP_001341575.1:p.Asp265Asn
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