Canonical Allele Identifier: CA214611
Gene: MCM8 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.5985921G>A
GRCh37 chr20:g.5966567G>A
gnomAD v2:
20:5966567 G / A
gnomAD v4:
chr20-5985921-G-A
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000190838
ClinVar Variation:
208810
dbSNP:
138761187
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5985921G>A , CM000682.2:g.5985921G>A GRCh38
NC_000020.10:g.5966567G>A , CM000682.1:g.5966567G>A GRCh37
NC_000020.9:g.5914567G>A NCBI36
NG_042869.1:g.40270G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652720.1:c.1954-1G>A ENSP00000498784.1:n.1954-1G>A
ENST00000265187.4:c.1906-1G>A ENSP00000265187.4:n.1906-1G>A
ENST00000378883.5:c.1813-1G>A ENSP00000368161.1:n.1813-1G>A
ENST00000378886.6:c.2074-1G>A ENSP00000368164.2:n.2074-1G>A
ENST00000378896.7:c.1954-1G>A ENSP00000368174.3:n.1954-1G>A
ENST00000610722.4:c.1954-1G>A MANE Select ENSP00000478141.1:n.1954-1G>A
NM_001281520.1:c.1954-1G>A NP_001268449.1:n.1954-1G>A
NM_001281521.1:c.2074-1G>A NP_001268450.1:n.2074-1G>A
NM_001281522.1:c.1813-1G>A NP_001268451.1:n.1813-1G>A
NM_032485.5:c.1954-1G>A NP_115874.3:n.1954-1G>A
NM_182802.2:c.1906-1G>A NP_877954.1:n.1906-1G>A
XR_937169.1:n.2385-1G>A
XM_017028105.1:c.2074-1G>A XP_016883594.1:n.2074-1G>A
XM_017028106.1:c.1762-1G>A XP_016883595.1:n.1762-1G>A
XM_017028107.1:c.1105-1G>A XP_016883596.1:n.1105-1G>A
XR_001754422.1:n.2385-1G>A
XR_001754423.1:n.2122-1G>A
NM_032485.6:c.1954-1G>A MANE Select NP_115874.3:n.1954-1G>A
NM_182802.3:c.1906-1G>A NP_877954.1:n.1906-1G>A
NM_001281520.2:c.1954-1G>A NP_001268449.1:n.1954-1G>A
NM_001281521.2:c.2074-1G>A NP_001268450.1:n.2074-1G>A
NM_001281522.2:c.1813-1G>A NP_001268451.1:n.1813-1G>A
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