Canonical Allele Identifier: CA10631182
Gene: MCM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 363191
ClinVar RCV Id: RCV000401390
dbSNP Id: rs530578769
gnomAD v2: 8-48872959-CAA-C
gnomAD v3: 8-47960399-CAA-C
gnomAD v4: 8-47960399-CAA-C
MyVariant Identifiers: chr8:g.48872960_48872961del (hg19) chr8:g.47960400_47960401del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47960400_47960401del , CM000670.2:g.47960400_47960401del GRCh38
NC_000008.10:g.48872960_48872961del , CM000670.1:g.48872960_48872961del GRCh37
NC_000008.9:g.49035513_49035514del NCBI36
NG_023435.1:g.4783_4784del , LRG_162:g.4783_4784del
NG_032967.1:g.5198_5199del

Transcript Alleles

HGVS Amino-acid Change
ENST00000518221.5:c.-15+80_-15+81del ENSP00000430329.1:n.-15+80_-15+81del
NM_005914.3:c.-745_-744del NP_005905.2:n.-745_-744del
NM_182746.2:c.-629_-628del NP_877423.1:n.-629_-628del
XM_005251234.1:c.-991_-990del XP_005251291.1:n.-991_-990del
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