Canonical Allele Identifier: CA4373669
Gene: MCM7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100096006G>A , CM000669.2:g.100096006G>A GRCh38
NC_000007.13:g.99693629G>A , CM000669.1:g.99693629G>A GRCh37
NC_000007.12:g.99531565G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005916.5:c.1363C>T MANE Select NP_005907.3:p.Arg455Cys
ENST00000303887.10:c.1363C>T MANE Select ENSP00000307288.5:p.Arg455Cys
NM_001278595.1:c.835C>T NP_001265524.1:p.Arg279Cys
NM_001278595.2:c.835C>T NP_001265524.1:p.Arg279Cys
NM_005916.4:c.1363C>T NP_005907.3:p.Arg455Cys
NM_182776.2:c.835C>T NP_877577.1:p.Arg279Cys
NM_182776.3:c.835C>T NP_877577.1:p.Arg279Cys
ENST00000303887.9:c.1363C>T ENSP00000307288.5:p.Arg455Cys
ENST00000343023.10:c.985+1828C>T ENSP00000344006.6:n.985+1828C>T
ENST00000354230.7:c.835C>T ENSP00000346171.3:p.Arg279Cys
ENST00000425308.6:c.1042C>T ENSP00000411295.2:p.Arg348Cys
ENST00000485286.5:n.1952C>T
ENST00000485286.6:n.1975C>T
ENST00000489841.5:n.1514C>T
ENST00000489841.6:n.2084C>T
ENST00000491245.6:c.86-33C>T
ENST00000621318.4:c.835C>T ENSP00000483795.1:p.Arg279Cys
ENST00000710813.1:c.1042C>T ENSP00000518500.1:p.Arg348Cys
ENST00000710814.1:c.1042C>T ENSP00000518501.1:p.Arg348Cys
ENST00000710815.1:c.1042C>T ENSP00000518502.1:p.Arg348Cys
XM_005250348.2:c.1042C>T XP_005250405.1:p.Arg348Cys
XM_005250348.3:c.1042C>T XP_005250405.1:p.Arg348Cys
XM_017012217.2:c.1042C>T XP_016867706.1:p.Arg348Cys