Canonical Allele Identifier: CA10631250

Gene: MCM4

Linked Data

• ClinVar Variation Id: 363249
• ClinVar RCV Id: RCV000284630
• dbSNP Id: rs568975576
• gnomAD v3: 8-47977315-T-C
• gnomAD v4: 8-47977315-T-C
• MyVariant Identifiers: chr8:g.48889875T>C (hg19) ; chr8:g.47977315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47977315T>C , CM000670.2:g.47977315T>C	GRCh38
NC_000008.10:g.48889875T>C , CM000670.1:g.48889875T>C	GRCh37
NC_000008.9:g.49052428T>C	NCBI36
NG_032967.1:g.22113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519470.2:n.2862T>C
ENST00000697120.1:n.4612T>C
ENST00000697121.1:n.3302T>C
ENST00000697123.1:n.3211T>C
ENST00000648533.1:n.23T>C
ENST00000649973.1:c.*537T>C MANE Select	ENSP00000496964.1:n.*537T>C
ENST00000262105.6:c.*537T>C	ENSP00000262105.2:n.*537T>C
ENST00000523944.5:c.*537T>C	ENSP00000430194.1:n.*537T>C
NM_005914.3:c.*537T>C	NP_005905.2:n.*537T>C
NM_182746.2:c.*537T>C	NP_877423.1:n.*537T>C
XM_005251234.1:c.*537T>C	XP_005251291.1:n.*537T>C
NM_005914.4:c.*537T>C	NP_005905.2:n.*537T>C
NM_182746.3:c.*537T>C MANE Select	NP_877423.1:n.*537T>C