Canonical Allele Identifier: CA852595546
Gene: MCM4 HGNC NCBI

Linked Data

dbSNP Id: rs1194503292
gnomAD v3: 8-47960483-GA-G
gnomAD v4: 8-47960483-GA-G
MyVariant Identifiers: chr8:g.48873044del (hg19) chr8:g.47960484del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47960485del , CM000670.2:g.47960485del GRCh38
NC_000008.10:g.48873045del , CM000670.1:g.48873045del GRCh37
NC_000008.9:g.49035598del NCBI36
NG_023435.1:g.4700del , LRG_162:g.4700del
NG_032967.1:g.5283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000518221.5:c.-15+165del ENSP00000430329.1:n.-15+165del
NM_005914.3:c.-660del NP_005905.2:n.-660del
NM_182746.2:c.-544del NP_877423.1:n.-544del
XM_005251234.1:c.-906del XP_005251291.1:n.-906del
Search 100 bp 5'
Search 100 bp 3'