Canonical Allele Identifier: CA852595500
Gene: MCM4 HGNC NCBI

Linked Data

dbSNP Id: rs1343102897
gnomAD v3: 8-47960444-C-CG
gnomAD v4: 8-47960444-C-CG
MyVariant Identifiers: chr8:g.48873004_48873005insG (hg19) chr8:g.47960444_47960445insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47960449dup , CM000670.2:g.47960449dup GRCh38
NC_000008.10:g.48873009dup , CM000670.1:g.48873009dup GRCh37
NC_000008.9:g.49035562dup NCBI36
NG_023435.1:g.4739dup , LRG_162:g.4739dup
NG_032967.1:g.5247dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000518221.5:c.-15+129dup ENSP00000430329.1:n.-15+129dup
NM_005914.3:c.-696dup NP_005905.2:n.-696dup
NM_182746.2:c.-580dup NP_877423.1:n.-580dup
XM_005251234.1:c.-942dup XP_005251291.1:n.-942dup
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