Canonical Allele Identifier: CA10631236

Gene: MCM4

Linked Data

• ClinVar Variation Id: 363228
• ClinVar RCV Id: RCV000388070 ; RCV003660796
• dbSNP Id: rs886062977
• gnomAD v4: 8-47966332-T-C
• MyVariant Identifiers: chr8:g.48878892T>C (hg19) ; chr8:g.47966332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47966332T>C , CM000670.2:g.47966332T>C	GRCh38
NC_000008.10:g.48878892T>C , CM000670.1:g.48878892T>C	GRCh37
NC_000008.9:g.49041445T>C	NCBI36
NG_032967.1:g.11130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697120.1:n.1073T>C
ENST00000697121.1:n.1151T>C
ENST00000697122.1:c.978T>C	ENSP00000513122.1:p.Ser326=
ENST00000697123.1:n.103T>C
ENST00000520637.2:c.210+57T>C	ENSP00000427875.2:n.210+57T>C
ENST00000647877.1:c.247-1033T>C
ENST00000648407.1:c.978T>C	ENSP00000497881.1:p.Ser326=
ENST00000648519.1:c.*707T>C	ENSP00000497176.1:n.*707T>C
ENST00000649838.1:c.978T>C	ENSP00000497648.1:p.Ser326=
ENST00000649919.1:c.828T>C	ENSP00000498202.1:p.Ser276=
ENST00000649973.1:c.978T>C MANE Select	ENSP00000496964.1:p.Ser326=
ENST00000650216.1:c.832+1620T>C	ENSP00000497093.1:n.832+1620T>C
ENST00000262105.6:c.978T>C	ENSP00000262105.2:p.Ser326=
ENST00000520637.1:c.207+57T>C	ENSP00000427875.1:n.207+57T>C
ENST00000523944.5:c.978T>C	ENSP00000430194.1:p.Ser326=
NM_005914.3:c.978T>C	NP_005905.2:p.Ser326=
NM_182746.2:c.978T>C	NP_877423.1:p.Ser326=
XM_005251234.1:c.828T>C	XP_005251291.1:p.Ser276=
NM_005914.4:c.978T>C	NP_005905.2:p.Ser326=
NM_182746.3:c.978T>C MANE Select	NP_877423.1:p.Ser326=