Canonical Allele Identifier: CA368451404
Gene: MCM7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100098604A>G , CM000669.2:g.100098604A>G GRCh38
NC_000007.13:g.99696227A>G , CM000669.1:g.99696227A>G GRCh37
NC_000007.12:g.99534163A>G NCBI36
NG_016312.1:g.2098A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000425308.6:c.373T>C ENSP00000411295.2:p.Phe125Leu
ENST00000485286.6:n.1306T>C
ENST00000489841.6:n.1415T>C
ENST00000710813.1:c.373T>C ENSP00000518500.1:p.Phe125Leu
ENST00000710814.1:c.373T>C ENSP00000518501.1:p.Phe125Leu
ENST00000710815.1:c.373T>C ENSP00000518502.1:p.Phe125Leu
ENST00000303887.10:c.694T>C MANE Select ENSP00000307288.5:p.Phe232Leu
ENST00000303887.9:c.694T>C ENSP00000307288.5:p.Phe232Leu
ENST00000343023.10:c.694T>C ENSP00000344006.6:p.Phe232Leu
ENST00000354230.7:c.166T>C ENSP00000346171.3:p.Phe56Leu
ENST00000425308.5:c.373T>C ENSP00000411295.1:p.Phe125Leu
ENST00000463722.5:n.1069T>C
ENST00000485286.5:n.1283T>C
ENST00000489841.5:n.845T>C
ENST00000491245.6:c.85+1049T>C
ENST00000621318.4:c.166T>C ENSP00000483795.1:p.Phe56Leu
NM_001278595.1:c.166T>C NP_001265524.1:p.Phe56Leu
NM_005916.4:c.694T>C NP_005907.3:p.Phe232Leu
NM_182776.2:c.166T>C NP_877577.1:p.Phe56Leu
XM_005250348.2:c.373T>C XP_005250405.1:p.Phe125Leu
XM_005250348.3:c.373T>C XP_005250405.1:p.Phe125Leu
XM_017012217.2:c.373T>C XP_016867706.1:p.Phe125Leu
NM_001278595.2:c.166T>C NP_001265524.1:p.Phe56Leu
NM_005916.5:c.694T>C MANE Select NP_005907.3:p.Phe232Leu
NM_182776.3:c.166T>C NP_877577.1:p.Phe56Leu