Canonical Allele Identifier: CA4742762

Gene: MCM4

Linked Data

• ClinVar Variation Id: 363238
• ClinVar RCV Id: RCV000306312 ; RCV000455613 ; RCV001518422
• dbSNP Id: rs762679
• ExAC: 8:48885436 T / A
• gnomAD v2: 8-48885436-T-A
• gnomAD v3: 8-47972876-T-A
• gnomAD v4: 8-47972876-T-A
• MyVariant Identifiers: chr8:g.48885436T>A (hg19) ; chr8:g.47972876T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47972876T>A , CM000670.2:g.47972876T>A	GRCh38
NC_000008.10:g.48885436T>A , CM000670.1:g.48885436T>A	GRCh37
NC_000008.9:g.49047989T>A	NCBI36
NG_032967.1:g.17674T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519470.2:n.1681T>A
ENST00000697120.1:n.3431T>A
ENST00000697121.1:n.2121T>A
ENST00000697122.1:c.1175-3810T>A	ENSP00000513122.1:n.1175-3810T>A
ENST00000697123.1:n.2030T>A
ENST00000520637.2:c.1105T>A	ENSP00000427875.2:p.Leu369Met
ENST00000647877.1:c.387T>A
ENST00000648407.1:c.1948T>A	ENSP00000497881.1:p.Leu650Met
ENST00000648519.1:c.*1677T>A	ENSP00000497176.1:n.*1677T>A
ENST00000649838.1:c.2071T>A	ENSP00000497648.1:p.Leu691Met
ENST00000649919.1:c.1798T>A	ENSP00000498202.1:p.Leu600Met
ENST00000649973.1:c.1948T>A MANE Select	ENSP00000496964.1:p.Leu650Met
ENST00000650216.1:c.1606T>A	ENSP00000497093.1:p.Leu536Met
ENST00000650327.1:n.55T>A
ENST00000262105.6:c.1948T>A	ENSP00000262105.2:p.Leu650Met
ENST00000518382.1:c.37+1408T>A
ENST00000523853.1:n.165T>A
ENST00000523944.5:c.1948T>A	ENSP00000430194.1:p.Leu650Met
NM_005914.3:c.1948T>A	NP_005905.2:p.Leu650Met
NM_182746.2:c.1948T>A	NP_877423.1:p.Leu650Met
XM_005251234.1:c.1798T>A	XP_005251291.1:p.Leu600Met
NM_005914.4:c.1948T>A	NP_005905.2:p.Leu650Met
NM_182746.3:c.1948T>A MANE Select	NP_877423.1:p.Leu650Met