Canonical Allele Identifier: CA10631208

Gene: MCM4

Linked Data

• ClinVar Variation Id: 363217
• ClinVar RCV Id: RCV000261774
• dbSNP Id: rs886062976
• gnomAD v3: 8-47962345-G-A
• gnomAD v4: 8-47962345-G-A
• MyVariant Identifiers: chr8:g.48874905G>A (hg19) ; chr8:g.47962345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47962345G>A , CM000670.2:g.47962345G>A	GRCh38
NC_000008.10:g.48874905G>A , CM000670.1:g.48874905G>A	GRCh37
NC_000008.9:g.49037458G>A	NCBI36
NG_023435.1:g.2839C>T , LRG_162:g.2839C>T
NG_032967.1:g.7143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697120.1:n.535G>A
ENST00000697121.1:n.528G>A
ENST00000697122.1:c.440G>A	ENSP00000513122.1:p.Gly147Asp
ENST00000648407.1:c.440G>A	ENSP00000497881.1:p.Gly147Asp
ENST00000648519.1:c.*169G>A	ENSP00000497176.1:n.*169G>A
ENST00000649838.1:c.440G>A	ENSP00000497648.1:p.Gly147Asp
ENST00000649919.1:c.290G>A	ENSP00000498202.1:p.Gly97Asp
ENST00000649973.1:c.440G>A MANE Select	ENSP00000496964.1:p.Gly147Asp
ENST00000650216.1:c.440G>A	ENSP00000497093.1:p.Gly147Asp
ENST00000262105.6:c.440G>A	ENSP00000262105.2:p.Gly147Asp
ENST00000519138.1:n.401G>A
ENST00000519170.1:c.290G>A	ENSP00000428833.1:p.Gly97Asp
ENST00000523944.5:c.440G>A	ENSP00000430194.1:p.Gly147Asp
ENST00000524086.5:c.*169G>A	ENSP00000427829.1:n.*169G>A
NM_005914.3:c.440G>A	NP_005905.2:p.Gly147Asp
NM_182746.2:c.440G>A	NP_877423.1:p.Gly147Asp
XM_005251234.1:c.290G>A	XP_005251291.1:p.Gly97Asp
NM_005914.4:c.440G>A	NP_005905.2:p.Gly147Asp
NM_182746.3:c.440G>A MANE Select	NP_877423.1:p.Gly147Asp